Mutagenetix > Incidental Mutation

Incidental Mutation 'R2202:Pbrm1'

238778

Institutional Source

Beutler Lab

Gene Symbol

Pbrm1

Ensembl Gene

ENSMUSG00000042323

Gene Name

polybromo 1

Synonyms

BAF180, Pb1, 2610016F04Rik, 2310032M22Rik

MMRRC Submission

040204-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2202 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31019138-31121592 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31032449 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 142 (D142G)

Ref Sequence

ENSEMBL: ENSMUSP00000107724 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022471] [ENSMUST00000022474] [ENSMUST00000052239] [ENSMUST00000090214] [ENSMUST00000112092] [ENSMUST00000112094] [ENSMUST00000112095] [ENSMUST00000112098] [ENSMUST00000112106] [ENSMUST00000123678] [ENSMUST00000135704] [ENSMUST00000146325] [ENSMUST00000136237] [ENSMUST00000156628] [ENSMUST00000144009]

AlphaFold

Q8BSQ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022471
AA Change: D142G

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022471
Gene: ENSMUSG00000042323
AA Change: D142G

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	516	627	6.07e-39	SMART
BROMO	651	765	3.01e-43	SMART
BROMO	775	881	2.53e-18	SMART
coiled coil region	907	934	N/A	INTRINSIC
BAH	956	1074	1.33e-45	SMART
low complexity region	1083	1097	N/A	INTRINSIC
BAH	1156	1272	3.02e-35	SMART
low complexity region	1318	1338	N/A	INTRINSIC
HMG	1378	1450	8.91e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000022474
AA Change: D142G

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022474
Gene: ENSMUSG00000042323
AA Change: D142G

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	531	642	6.07e-39	SMART
BROMO	666	780	3.01e-43	SMART
BROMO	790	896	2.53e-18	SMART
coiled coil region	922	949	N/A	INTRINSIC
BAH	971	1089	1.33e-45	SMART
low complexity region	1098	1112	N/A	INTRINSIC
BAH	1171	1287	3.02e-35	SMART
low complexity region	1333	1353	N/A	INTRINSIC
HMG	1393	1465	8.91e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000052239
AA Change: D142G

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000060476
Gene: ENSMUSG00000042323
AA Change: D142G

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	516	627	6.07e-39	SMART
BROMO	651	765	3.01e-43	SMART
BROMO	775	881	2.53e-18	SMART
coiled coil region	907	934	N/A	INTRINSIC
BAH	956	1049	8.64e-22	SMART
low complexity region	1058	1072	N/A	INTRINSIC
BAH	1131	1247	3.02e-35	SMART
low complexity region	1293	1310	N/A	INTRINSIC
HMG	1326	1396	2.87e-13	SMART
low complexity region	1405	1430	N/A	INTRINSIC
low complexity region	1449	1477	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090214
AA Change: D142G

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000087682
Gene: ENSMUSG00000042323
AA Change: D142G

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	516	627	6.07e-39	SMART
BROMO	651	765	3.01e-43	SMART
BROMO	775	881	2.53e-18	SMART
coiled coil region	907	934	N/A	INTRINSIC
BAH	956	1074	1.33e-45	SMART
low complexity region	1083	1097	N/A	INTRINSIC
BAH	1156	1272	3.02e-35	SMART
low complexity region	1318	1338	N/A	INTRINSIC
HMG	1378	1448	1.62e-21	SMART
low complexity region	1464	1475	N/A	INTRINSIC
low complexity region	1485	1500	N/A	INTRINSIC
low complexity region	1512	1537	N/A	INTRINSIC
low complexity region	1556	1584	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112092
AA Change: D142G

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000107721
Gene: ENSMUSG00000042323
AA Change: D142G

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	531	642	6.07e-39	SMART
BROMO	666	780	3.01e-43	SMART
BROMO	790	896	2.53e-18	SMART
coiled coil region	922	949	N/A	INTRINSIC
BAH	971	1089	1.33e-45	SMART
low complexity region	1098	1112	N/A	INTRINSIC
BAH	1171	1287	3.02e-35	SMART
low complexity region	1333	1353	N/A	INTRINSIC
HMG	1393	1463	1.62e-21	SMART
low complexity region	1479	1490	N/A	INTRINSIC
low complexity region	1519	1547	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112094
AA Change: D142G

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107723
Gene: ENSMUSG00000042323
AA Change: D142G

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	322	338	N/A	INTRINSIC
BROMO	347	457	1.57e-32	SMART
BROMO	484	595	6.07e-39	SMART
BROMO	619	733	3.01e-43	SMART
BROMO	743	849	2.53e-18	SMART
coiled coil region	875	902	N/A	INTRINSIC
BAH	924	1042	1.33e-45	SMART
low complexity region	1051	1065	N/A	INTRINSIC
BAH	1124	1240	3.02e-35	SMART
low complexity region	1286	1306	N/A	INTRINSIC
HMG	1346	1416	2.87e-13	SMART
low complexity region	1425	1450	N/A	INTRINSIC
low complexity region	1469	1497	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112095
AA Change: D142G

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107724
Gene: ENSMUSG00000042323
AA Change: D142G

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	516	627	6.07e-39	SMART
BROMO	651	765	3.01e-43	SMART
BROMO	775	881	2.53e-18	SMART
coiled coil region	907	934	N/A	INTRINSIC
BAH	956	1074	1.33e-45	SMART
low complexity region	1083	1097	N/A	INTRINSIC
BAH	1156	1272	3.02e-35	SMART
low complexity region	1318	1338	N/A	INTRINSIC
HMG	1378	1448	2.87e-13	SMART
low complexity region	1457	1482	N/A	INTRINSIC
low complexity region	1501	1529	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112098
AA Change: D142G

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107727
Gene: ENSMUSG00000042323
AA Change: D142G

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	531	642	6.07e-39	SMART
BROMO	666	780	3.01e-43	SMART
BROMO	790	896	2.53e-18	SMART
coiled coil region	922	949	N/A	INTRINSIC
BAH	971	1089	1.33e-45	SMART
low complexity region	1098	1112	N/A	INTRINSIC
BAH	1171	1287	3.02e-35	SMART
low complexity region	1333	1353	N/A	INTRINSIC
HMG	1393	1463	1.62e-21	SMART
low complexity region	1479	1490	N/A	INTRINSIC
low complexity region	1500	1515	N/A	INTRINSIC
low complexity region	1527	1552	N/A	INTRINSIC
low complexity region	1571	1599	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112106

SMART Domains

Protein: ENSMUSP00000107734
Gene: ENSMUSG00000042323

Domain	Start	End	E-Value	Type
Blast:BROMO	61	91	6e-16	BLAST
PDB:3IU5\|A	61	91	6e-17	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000123678
AA Change: D142G

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120549
Gene: ENSMUSG00000042323
AA Change: D142G

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	516	627	6.07e-39	SMART
BROMO	651	765	3.01e-43	SMART
BROMO	775	856	2.3e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135704
AA Change: D86G

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115505
Gene: ENSMUSG00000042323
AA Change: D86G

Domain	Start	End	E-Value	Type
BROMO	1	97	3.24e-25	SMART
BROMO	119	233	5.84e-41	SMART
low complexity region	298	314	N/A	INTRINSIC
BROMO	323	433	1.57e-32	SMART
BROMO	475	586	6.07e-39	SMART
BROMO	610	724	3.01e-43	SMART
BROMO	734	840	2.53e-18	SMART
low complexity region	862	892	N/A	INTRINSIC
BAH	914	1032	1.33e-45	SMART
low complexity region	1041	1055	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146325
AA Change: D163G

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122805
Gene: ENSMUSG00000042323
AA Change: D163G

Domain	Start	End	E-Value	Type
BROMO	64	174	4.97e-35	SMART
BROMO	196	310	5.84e-41	SMART
low complexity region	343	359	N/A	INTRINSIC
BROMO	368	478	1.57e-32	SMART
BROMO	505	616	6.07e-39	SMART
BROMO	640	754	3.01e-43	SMART
BROMO	764	870	2.53e-18	SMART
coiled coil region	896	923	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136237
AA Change: D142G

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000119722
Gene: ENSMUSG00000042323
AA Change: D142G

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	516	627	6.07e-39	SMART
BROMO	651	765	3.01e-43	SMART
BROMO	775	859	7.08e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156628
AA Change: D142G

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123546
Gene: ENSMUSG00000042323
AA Change: D142G

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	516	627	6.07e-39	SMART
BROMO	651	765	3.01e-43	SMART
BROMO	775	881	2.53e-18	SMART
low complexity region	903	933	N/A	INTRINSIC
BAH	955	1073	1.33e-45	SMART
low complexity region	1082	1096	N/A	INTRINSIC
BAH	1155	1271	3.02e-35	SMART
low complexity region	1317	1337	N/A	INTRINSIC
HMG	1377	1447	2.87e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145497

Predicted Effect

probably benign
Transcript: ENSMUST00000144009

SMART Domains

Protein: ENSMUSP00000123518
Gene: ENSMUSG00000042323

Domain	Start	End	E-Value	Type
Blast:BROMO	40	68	8e-14	BLAST
PDB:3IU5\|A	64	84	8e-9	PDB

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 63,898,668	V249A	possibly damaging	Het
5330417C22Rik	C	T	3: 108,475,043	G270E	probably damaging	Het
9930111J21Rik2	C	G	11: 49,019,322	L761F	probably damaging	Het
Abca1	G	A	4: 53,090,291	T386I	probably damaging	Het
Abca14	T	C	7: 120,289,541	Y1237H	probably benign	Het
Abi3bp	T	G	16: 56,613,203	L550R	probably benign	Het
Abi3bp	C	T	16: 56,650,725	R578*	probably null	Het
Adamts7	A	T	9: 90,180,676	K394N	probably damaging	Het
Ahdc1	A	G	4: 133,065,909	E1487G	possibly damaging	Het
AI987944	T	C	7: 41,374,526	E343G	probably damaging	Het
Ankrd26	T	A	6: 118,523,882	H876L	possibly damaging	Het
Atg16l1	A	C	1: 87,767,015	Q138P	probably benign	Het
Atp1b1	G	T	1: 164,453,515	T11K	probably benign	Het
Calr3	A	G	8: 72,434,839	L40S	probably damaging	Het
Ccar1	A	C	10: 62,745,287	D1119E	unknown	Het
Cdan1	C	A	2: 120,720,760	C1093F	probably damaging	Het
Cdk12	T	G	11: 98,210,638	S441A	unknown	Het
Ces4a	T	A	8: 105,146,114	V333E	probably damaging	Het
Cfap61	T	C	2: 146,214,680	L1193P	probably damaging	Het
Chd2	A	T	7: 73,478,668	D856E	probably benign	Het
Chil3	T	C	3: 106,164,246	D34G	probably benign	Het
Cln3	T	A	7: 126,579,218	H211L	probably benign	Het
Cpa1	A	G	6: 30,641,819	D214G	probably damaging	Het
Cttnbp2	T	G	6: 18,408,694	D976A	probably benign	Het
Dcstamp	T	A	15: 39,754,312	V39E	probably damaging	Het
Dicer1	C	T	12: 104,731,038	V87M	possibly damaging	Het
Duox1	A	G	2: 122,344,713	T1331A	probably benign	Het
Fam184a	T	A	10: 53,652,434	Q29L	probably damaging	Het
Fcer2a	T	C	8: 3,688,557	E60G	possibly damaging	Het
Flnc	C	T	6: 29,459,508	P2536S	probably damaging	Het
Fnbp1l	A	T	3: 122,546,962	M463K	probably benign	Het
Garem2	A	G	5: 30,114,764	D408G	probably benign	Het
Gm12169	A	G	11: 46,528,567	N70S	probably benign	Het
Gm6370	T	A	5: 146,493,729	D241E	probably benign	Het
Gpc3	T	A	X: 52,397,206	I344F	probably damaging	Het
Gtf2e1	T	A	16: 37,511,542	E390D	possibly damaging	Het
Hmgcs2	T	A	3: 98,291,183	I134N	probably damaging	Het
Il15ra	T	A	2: 11,718,344		probably null	Het
Ints8	A	T	4: 11,225,712	M615K	possibly damaging	Het
Irak1	G	A	X: 74,017,138	T193I	probably damaging	Het
Jmjd1c	A	G	10: 67,239,463		probably null	Het
Knstrn	T	A	2: 118,830,975		probably null	Het
Letm1	C	A	5: 33,769,486	V156L	possibly damaging	Het
Lrrc24	G	A	15: 76,722,911	P95L	probably damaging	Het
Map2k2	T	C	10: 81,119,379	S14P	probably damaging	Het
Me3	T	C	7: 89,850,381	Y535H	probably damaging	Het
Nfatc2ip	T	C	7: 126,391,295	E178G	probably benign	Het
Nop56	T	A	2: 130,277,568	I51N	probably damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Nudt5	A	T	2: 5,855,983	I22F	possibly damaging	Het
Olfr1198	C	G	2: 88,746,609	G93A	probably benign	Het
Olfr164	C	T	16: 19,286,297	A149T	probably benign	Het
Olfr714	T	A	7: 107,074,316	W163R	probably damaging	Het
Pdcl	A	T	2: 37,352,044	N231K	probably benign	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Pid1	T	A	1: 84,038,438	I69F	probably damaging	Het
Pkhd1	A	G	1: 20,537,360	S1091P	probably benign	Het
Plcb4	T	C	2: 136,002,594	I144T	probably benign	Het
Plxnd1	T	C	6: 115,962,764	N1418S	probably benign	Het
Pmm1	T	C	15: 81,956,400	T82A	probably benign	Het
Prrc2b	C	A	2: 32,223,464	Q1970K	probably damaging	Het
Ptprz1	C	T	6: 23,000,650	T913M	possibly damaging	Het
Ralgapa1	T	C	12: 55,612,800		probably null	Het
Rbm8a2	T	C	1: 175,978,854	E19G	possibly damaging	Het
Rgs3	T	C	4: 62,690,504	S336P	probably damaging	Het
Serpina11	G	T	12: 103,985,974	T179K	probably damaging	Het
Serpina1f	T	C	12: 103,693,396	N209S	possibly damaging	Het
Serpinf2	G	A	11: 75,436,762	T159I	probably benign	Het
Slc19a1	T	C	10: 77,041,924	C98R	possibly damaging	Het
Slc22a20	A	T	19: 5,971,525	I483N	possibly damaging	Het
Spata31d1d	A	G	13: 59,731,621	C34R	possibly damaging	Het
Stoml2	G	T	4: 43,030,243	Y119*	probably null	Het
Susd1	A	G	4: 59,349,843	L531P	possibly damaging	Het
Tex45	A	T	8: 3,479,028	D201V	probably benign	Het
Tln1	C	T	4: 43,553,083		probably null	Het
Tmem39b	A	C	4: 129,693,923	S32A	probably benign	Het
Tmx3	T	C	18: 90,527,913	F206S	probably damaging	Het
Tnfsf14	T	C	17: 57,190,638	D198G	possibly damaging	Het
Trappc10	A	G	10: 78,199,042		probably null	Het
Tssk2	A	G	16: 17,898,739	D2G	possibly damaging	Het
Ttn	T	C	2: 76,771,641	N18559S	possibly damaging	Het
Ube3b	G	A	5: 114,389,074	V118M	probably damaging	Het
Vmn1r23	T	C	6: 57,926,619	D58G	probably benign	Het
Vmn2r53	T	A	7: 12,601,439	Y98F	probably damaging	Het
Vmn2r58	T	A	7: 41,864,170	N350Y	probably benign	Het
Vmn2r82	A	T	10: 79,356,685	H32L	probably benign	Het
Wsb1	T	C	11: 79,240,386	I395V	probably benign	Het
Zfat	T	C	15: 68,179,860	D695G	probably benign	Het
Zfp358	G	T	8: 3,496,995	V526F	possibly damaging	Het
Zfp651	A	G	9: 121,762,637	T8A	possibly damaging	Het
Zmat1	A	G	X: 134,973,112	L476P	possibly damaging	Het

Other mutations in Pbrm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00598:Pbrm1	APN	14	31030927	missense	probably damaging	1.00
IGL00648:Pbrm1	APN	14	31052283	missense	probably damaging	1.00
IGL00654:Pbrm1	APN	14	31032404	splice site	probably benign
IGL00674:Pbrm1	APN	14	31118776	missense	probably damaging	1.00
IGL00701:Pbrm1	APN	14	31052248	missense	probably damaging	1.00
IGL00850:Pbrm1	APN	14	31087619	missense	probably damaging	1.00
IGL01024:Pbrm1	APN	14	31052260	missense	probably damaging	1.00
IGL01924:Pbrm1	APN	14	31082604	missense	probably damaging	1.00
IGL02122:Pbrm1	APN	14	31089616	missense	probably damaging	0.97
IGL02390:Pbrm1	APN	14	31032510	missense	probably benign	0.00
IGL02675:Pbrm1	APN	14	31106287	missense	possibly damaging	0.85
IGL02936:Pbrm1	APN	14	31061513	missense	probably damaging	1.00
IGL02938:Pbrm1	APN	14	31067804	missense	probably damaging	1.00
IGL02997:Pbrm1	APN	14	31061551	missense	probably damaging	1.00
IGL03246:Pbrm1	APN	14	31110549	missense	probably benign	0.00
IGL03290:Pbrm1	APN	14	31107284	missense	probably damaging	1.00
IGL03372:Pbrm1	APN	14	31085019	missense	probably benign	0.04
IGL03386:Pbrm1	APN	14	31050092	missense	probably damaging	1.00
PIT4520001:Pbrm1	UTSW	14	31067861	missense	probably damaging	0.99
R0502:Pbrm1	UTSW	14	31064820	missense	probably benign	0.36
R0552:Pbrm1	UTSW	14	31035959	missense	probably damaging	1.00
R0558:Pbrm1	UTSW	14	31085059	splice site	probably null
R0561:Pbrm1	UTSW	14	31035991	missense	probably benign
R0591:Pbrm1	UTSW	14	31046430	splice site	probably benign
R0835:Pbrm1	UTSW	14	31067579	missense	probably damaging	1.00
R1167:Pbrm1	UTSW	14	31050142	missense	probably damaging	1.00
R1209:Pbrm1	UTSW	14	31118852	missense	probably damaging	1.00
R1259:Pbrm1	UTSW	14	31074814	missense	probably damaging	1.00
R1321:Pbrm1	UTSW	14	31067502	missense	probably damaging	1.00
R1622:Pbrm1	UTSW	14	31032548	missense	probably benign	0.07
R1843:Pbrm1	UTSW	14	31038957	missense	probably damaging	1.00
R1870:Pbrm1	UTSW	14	31106175	missense	probably damaging	0.99
R2203:Pbrm1	UTSW	14	31032449	missense	possibly damaging	0.76
R2247:Pbrm1	UTSW	14	31074893	missense	probably damaging	1.00
R3237:Pbrm1	UTSW	14	31032475	missense	probably damaging	1.00
R4091:Pbrm1	UTSW	14	31036003	missense	probably benign	0.00
R4280:Pbrm1	UTSW	14	31107312	critical splice donor site	probably null
R4379:Pbrm1	UTSW	14	31067706	missense	probably damaging	1.00
R4381:Pbrm1	UTSW	14	31025556	missense	probably benign	0.02
R4816:Pbrm1	UTSW	14	31110448	missense	probably benign	0.32
R4939:Pbrm1	UTSW	14	31061623	missense	probably damaging	1.00
R4945:Pbrm1	UTSW	14	31052216	missense	probably damaging	0.97
R4958:Pbrm1	UTSW	14	31074827	missense	probably damaging	1.00
R5095:Pbrm1	UTSW	14	31032530	missense	probably benign	0.00
R5276:Pbrm1	UTSW	14	31106184	missense	probably damaging	0.99
R5387:Pbrm1	UTSW	14	31082610	missense	probably damaging	1.00
R5434:Pbrm1	UTSW	14	31085011	missense	probably damaging	0.96
R5476:Pbrm1	UTSW	14	31032519	missense	probably benign	0.00
R5522:Pbrm1	UTSW	14	31089563	missense	probably damaging	1.00
R5548:Pbrm1	UTSW	14	31105424	missense	probably damaging	1.00
R5605:Pbrm1	UTSW	14	31035992	missense	probably benign	0.20
R6089:Pbrm1	UTSW	14	31087585	missense	probably damaging	0.99
R6159:Pbrm1	UTSW	14	31052283	missense	possibly damaging	0.95
R6224:Pbrm1	UTSW	14	31050111	missense	probably benign	0.19
R6335:Pbrm1	UTSW	14	31084095	missense	probably damaging	1.00
R6499:Pbrm1	UTSW	14	31061509	missense	probably damaging	0.99
R6823:Pbrm1	UTSW	14	31084790	missense	probably damaging	1.00
R7002:Pbrm1	UTSW	14	31064820	missense	probably benign	0.36
R7021:Pbrm1	UTSW	14	31067816	missense	probably damaging	0.98
R7216:Pbrm1	UTSW	14	31045422	missense	possibly damaging	0.93
R7588:Pbrm1	UTSW	14	31084943	missense	probably damaging	0.99
R7828:Pbrm1	UTSW	14	31030891	missense	probably damaging	1.00
R8035:Pbrm1	UTSW	14	31084152	missense	probably damaging	1.00
R8188:Pbrm1	UTSW	14	31067816	missense	probably damaging	0.98
R8417:Pbrm1	UTSW	14	31027462	missense	possibly damaging	0.92
R8517:Pbrm1	UTSW	14	31067782	missense	probably benign	0.00
R9024:Pbrm1	UTSW	14	31061666	missense	probably damaging	1.00
R9294:Pbrm1	UTSW	14	31084803	nonsense	probably null
R9509:Pbrm1	UTSW	14	31084957	missense	probably damaging	1.00
R9713:Pbrm1	UTSW	14	31106166	missense	probably damaging	0.99
Z1088:Pbrm1	UTSW	14	31110454	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- GAAGATGGACTAAGTTGTGCATATC -3'
(R):5'- GAAGCAGCAACATAGCGCTC -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- GCAACATAGCGCTCCCTCC -3'

Posted On

2014-10-02