Mutagenetix > Incidental Mutations

Incidental Mutation 'R0743:Prr14l'

70769

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

MMRRC Submission

038924-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R0743 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32789820-32854256 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32831194 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 319 (C319F)

Ref Sequence

ENSEMBL: ENSMUSP00000113259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120129] [ENSMUST00000130134] [ENSMUST00000144673] [ENSMUST00000155392]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120129
AA Change: C319F

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: C319F

Domain	Start	End	E-Value	Type
low complexity region	720	731	N/A	INTRINSIC
low complexity region	1433	1446	N/A	INTRINSIC
low complexity region	1471	1480	N/A	INTRINSIC
Pfam:Tantalus	1838	1895	2.9e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130134

Predicted Effect

probably benign
Transcript: ENSMUST00000144673

SMART Domains

Protein: ENSMUSP00000124923
Gene: ENSMUSG00000093574

Domain	Start	End	E-Value	Type
Pfam:Tantalus	158	193	1.2e-15	PFAM
Pfam:PS_Dcarbxylase	332	575	2.1e-71	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155392

SMART Domains

Protein: ENSMUSP00000119569
Gene: ENSMUSG00000054280

Domain	Start	End	E-Value	Type
low complexity region	276	289	N/A	INTRINSIC
low complexity region	314	323	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.7%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,553,288	I844N	possibly damaging	Het
Bend7	A	T	2: 4,744,244	K57N	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Csmd2	A	T	4: 128,113,676	T149S	probably benign	Het
Cyp2a12	T	C	7: 27,032,542	I236T	probably benign	Het
Dnase1l2	A	G	17: 24,441,880	V170A	possibly damaging	Het
Dnm2	T	A	9: 21,500,265	Y597N	probably damaging	Het
Epsti1	A	T	14: 77,931,275	R117S	probably damaging	Het
Gabarapl2	A	T	8: 111,942,505	I32F	probably damaging	Het
Glrb	T	A	3: 80,879,680	I59F	probably damaging	Het
Gm13089	A	T	4: 143,698,564	I103N	probably damaging	Het
Gm17689	T	C	9: 36,581,301	S103G	probably benign	Het
Gosr1	A	G	11: 76,730,146	I239T	probably benign	Het
Kif5b	G	T	18: 6,209,192	R857S	probably damaging	Het
Kmt5a	C	A	5: 124,447,219	N44K	probably damaging	Het
Ksr1	A	T	11: 79,021,503	H675Q	possibly damaging	Het
Maats1	A	G	16: 38,335,634	F76L	possibly damaging	Het
Mep1b	A	G	18: 21,080,458	D68G	possibly damaging	Het
Nebl	A	C	2: 17,411,118	S327A	probably benign	Het
Nfat5	G	A	8: 107,368,066	E962K	probably damaging	Het
Nfatc4	A	C	14: 55,826,644	D126A	probably damaging	Het
Nmt2	A	T	2: 3,314,785	R271*	probably null	Het
Nol7	G	A	13: 43,400,615	V133I	probably benign	Het
Npepps	A	G	11: 97,206,058		probably benign	Het
Nphp3	GCATCATCATCATCATC	GCATCATCATCATC	9: 104,022,768		probably benign	Het
Olfr1100	G	A	2: 86,978,499	T99I	probably benign	Het
Olfr376	A	T	11: 73,374,889	I47F	probably benign	Het
Olfr610	C	T	7: 103,506,862	W28*	probably null	Het
Olfr798	T	A	10: 129,625,843	T73S	probably benign	Het
Ovgp1	T	A	3: 105,974,932	L37H	probably damaging	Het
Padi3	G	T	4: 140,786,429	A646D	probably benign	Het
Pamr1	A	G	2: 102,609,907	E142G	probably damaging	Het
Papolg	A	T	11: 23,870,818		probably null	Het
Pfkl	C	T	10: 77,995,243		probably null	Het
Plrg1	T	C	3: 83,059,917	S132P	probably benign	Het
Prtn3	T	A	10: 79,879,677	M1K	probably null	Het
Ptpn22	T	C	3: 103,902,171	F700S	probably damaging	Het
Ptprz1	C	T	6: 23,044,367	Q1273*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Ryr2	T	C	13: 11,554,529	D4963G	probably damaging	Het
Sec16a	G	A	2: 26,419,722	L2091F	possibly damaging	Het
Senp6	C	T	9: 80,093,589	R27C	probably damaging	Het
Shcbp1	T	A	8: 4,764,906	M191L	probably benign	Het
Sirt4	T	C	5: 115,482,955	K53E	probably benign	Het
Slc10a2	A	G	8: 5,089,132	S271P	probably damaging	Het
Slc35b2	T	A	17: 45,566,825	F293I	probably damaging	Het
Slc38a10	C	T	11: 120,140,643	V103M	probably damaging	Het
St5	A	G	7: 109,557,345	L66P	probably damaging	Het
Stab2	T	A	10: 86,887,895	I1479F	probably damaging	Het
Synpo2	A	G	3: 123,112,706	V987A	probably benign	Het
Syt9	A	G	7: 107,436,561	I262V	probably damaging	Het
Taf2	GCTTCTTCTTCTTCTTCTT	GCTTCTTCTTCTTCTT	15: 55,016,461		probably benign	Het
Tmem39a	A	T	16: 38,585,402	I200F	probably damaging	Het
Ttn	G	A	2: 76,749,269	T23760M	probably damaging	Het
Uqcrc1	C	T	9: 108,944,705	Q22*	probably null	Het
Wdtc1	A	G	4: 133,300,661	W377R	probably damaging	Het
Zfp454	A	G	11: 50,873,937	S223P	probably benign	Het

Other mutations in Prr14l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Prr14l	APN	5	32830676	missense	probably benign	0.04
IGL00331:Prr14l	APN	5	32831066	missense	probably benign	0.02
IGL01571:Prr14l	APN	5	32828806	missense	probably benign	0.01
IGL01795:Prr14l	APN	5	32831845	unclassified	probably benign
IGL01929:Prr14l	APN	5	32828243	missense	probably benign	0.09
IGL01959:Prr14l	APN	5	32830205	missense	possibly damaging	0.84
IGL02139:Prr14l	APN	5	32827532	missense	probably damaging	1.00
IGL02321:Prr14l	APN	5	32827807	missense	probably benign	0.10
IGL02508:Prr14l	APN	5	32830942	missense	probably benign	0.01
IGL02551:Prr14l	APN	5	32831484	missense	probably damaging	1.00
IGL02585:Prr14l	APN	5	32829484	missense	possibly damaging	0.59
IGL02614:Prr14l	APN	5	32830543	missense	possibly damaging	0.76
IGL02808:Prr14l	APN	5	32828182	missense	possibly damaging	0.94
IGL02836:Prr14l	APN	5	32831096	missense	probably benign	0.42
IGL02952:Prr14l	APN	5	32835670	missense	unknown
IGL03034:Prr14l	APN	5	32827438	missense	possibly damaging	0.48
Polymer	UTSW	5	32827145	missense	probably benign	0.34
Postwar	UTSW	5	32830684	missense	probably benign	0.17
H8562:Prr14l	UTSW	5	32793728	missense	probably damaging	1.00
R0086:Prr14l	UTSW	5	32831559	unclassified	probably benign
R0149:Prr14l	UTSW	5	32793641	missense	probably damaging	1.00
R0333:Prr14l	UTSW	5	32827993	missense	probably damaging	1.00
R0361:Prr14l	UTSW	5	32793641	missense	probably damaging	1.00
R0416:Prr14l	UTSW	5	32828717	missense	probably benign	0.25
R0480:Prr14l	UTSW	5	32829880	missense	probably benign	0.02
R0511:Prr14l	UTSW	5	32844216	intron	probably benign
R0639:Prr14l	UTSW	5	32828915	missense	probably benign	0.02
R0673:Prr14l	UTSW	5	32828915	missense	probably benign	0.02
R0792:Prr14l	UTSW	5	32828423	missense	probably damaging	1.00
R1006:Prr14l	UTSW	5	32829482	missense	probably benign	0.00
R1342:Prr14l	UTSW	5	32830260	missense	probably damaging	1.00
R1433:Prr14l	UTSW	5	32828833	missense	probably damaging	1.00
R1527:Prr14l	UTSW	5	32827949	missense	possibly damaging	0.75
R1704:Prr14l	UTSW	5	32830282	missense	probably benign	0.01
R1967:Prr14l	UTSW	5	32844469	intron	probably benign
R2129:Prr14l	UTSW	5	32831828	unclassified	probably benign
R2150:Prr14l	UTSW	5	32830702	missense	probably benign	0.14
R2318:Prr14l	UTSW	5	32830078	missense	probably benign	0.04
R2915:Prr14l	UTSW	5	32829768	missense	probably benign	0.04
R3551:Prr14l	UTSW	5	32828619	unclassified	probably null
R3820:Prr14l	UTSW	5	32828984	missense	probably damaging	0.99
R3852:Prr14l	UTSW	5	32830345	missense	probably damaging	1.00
R4126:Prr14l	UTSW	5	32828003	missense	probably damaging	0.97
R4345:Prr14l	UTSW	5	32828576	missense	probably damaging	1.00
R4388:Prr14l	UTSW	5	32829254	missense	probably damaging	1.00
R4575:Prr14l	UTSW	5	32793644	missense	probably damaging	1.00
R4596:Prr14l	UTSW	5	32829308	missense	probably benign	0.01
R4690:Prr14l	UTSW	5	32844156	intron	probably benign
R4824:Prr14l	UTSW	5	32844399	intron	probably benign
R4868:Prr14l	UTSW	5	32829937	missense	probably benign	0.04
R4869:Prr14l	UTSW	5	32828833	missense	probably damaging	1.00
R5201:Prr14l	UTSW	5	32830247	missense	possibly damaging	0.52
R5328:Prr14l	UTSW	5	32830021	missense	probably benign	0.00
R5410:Prr14l	UTSW	5	32827777	missense	probably damaging	0.98
R5476:Prr14l	UTSW	5	32844138	intron	probably benign
R5623:Prr14l	UTSW	5	32844508	intron	probably benign
R5730:Prr14l	UTSW	5	32793603	missense	probably damaging	1.00
R5988:Prr14l	UTSW	5	32830851	missense	probably damaging	0.98
R6261:Prr14l	UTSW	5	32829404	missense	possibly damaging	0.46
R6283:Prr14l	UTSW	5	32830264	missense	probably benign	0.14
R6307:Prr14l	UTSW	5	32827525	missense	probably damaging	0.97
R6825:Prr14l	UTSW	5	32828548	missense	possibly damaging	0.86
R6862:Prr14l	UTSW	5	32827759	missense	probably damaging	1.00
R6880:Prr14l	UTSW	5	32830867	missense	probably benign	0.01
R6931:Prr14l	UTSW	5	32830691	missense	probably damaging	0.98
R7101:Prr14l	UTSW	5	32829427	missense	probably damaging	1.00
R7164:Prr14l	UTSW	5	32829166	missense	probably damaging	1.00
R7203:Prr14l	UTSW	5	32827145	missense	probably benign	0.34
R7211:Prr14l	UTSW	5	32830087	missense	probably damaging	0.98
R7305:Prr14l	UTSW	5	32831101	missense	probably benign	0.14
R7346:Prr14l	UTSW	5	32830684	missense	probably benign	0.17
R7395:Prr14l	UTSW	5	32828638	missense	probably benign	0.00
R7624:Prr14l	UTSW	5	32829623	missense	possibly damaging	0.54
R7649:Prr14l	UTSW	5	32828245	missense	probably benign	0.18
R7753:Prr14l	UTSW	5	32827253	missense	probably damaging	1.00
R7828:Prr14l	UTSW	5	32844391	intron	probably benign
R7898:Prr14l	UTSW	5	32829966	missense	probably benign	0.04
R7981:Prr14l	UTSW	5	32829966	missense	probably benign	0.04
R8071:Prr14l	UTSW	5	32831164	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGAGCGTTTCTCAGGATGGGTCAC -3'
(R):5'- AGTCTCAGCCACTGCAAGGAAAAG -3'

Sequencing Primer
(F):5'- TTCTCAGGATGGGTCACATCAAC -3'
(R):5'- TAGATACTGTAAAGCCCTCCGAAG -3'

Posted On

2013-09-30