Mutagenetix > Incidental Mutations

Incidental Mutation 'R0149:Prr14l'

22704

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

MMRRC Submission

038433-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R0149 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32789820-32854256 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 32793641 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 1936 (L1936R)

Ref Sequence

ENSEMBL: ENSMUSP00000113259 (fasta)

Gene Model

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

AlphaFold

E9Q7C4

Predicted Effect

probably damaging
Transcript: ENSMUST00000120129
AA Change: L1936R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: L1936R

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: 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

noncoding transcript
Transcript: ENSMUST00000147752

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

Meta Mutation Damage Score

0.6466

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

97% (84/87)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	C	8: 12,280,000	S152R	unknown	Het
Acsbg2	A	G	17: 56,853,924		probably benign	Het
Adam6a	G	T	12: 113,545,749	V581F	probably damaging	Het
Adgrl3	A	T	5: 81,760,697	I1165F	probably damaging	Het
Aldh1l1	A	G	6: 90,589,414	K656E	possibly damaging	Het
Ankhd1	T	C	18: 36,647,214	I1773T	probably damaging	Het
Api5	A	T	2: 94,423,497	L287*	probably null	Het
Ascc3	A	T	10: 50,607,993	N55I	probably benign	Het
Cav1	C	A	6: 17,339,353	R146S	possibly damaging	Het
Cdhr2	A	T	13: 54,734,007	I1118F	probably damaging	Het
Cemip	A	G	7: 83,964,010	I660T	probably benign	Het
Clk1	T	A	1: 58,414,601	N305Y	probably damaging	Het
Cux1	T	A	5: 136,279,497	I1263F	probably damaging	Het
Cyp2d26	A	G	15: 82,792,767	L152P	probably damaging	Het
Dmtf1	A	G	5: 9,132,571	S188P	probably damaging	Het
Dock2	A	G	11: 34,438,327	L202P	probably damaging	Het
Dscaml1	T	G	9: 45,742,680	Y1418*	probably null	Het
Efemp2	A	T	19: 5,477,960	H107L	probably damaging	Het
Eng	T	C	2: 32,672,385		probably null	Het
Erc1	A	T	6: 119,824,830	S75R	probably damaging	Het
Fgl2	A	T	5: 21,375,785	D375V	probably damaging	Het
Fpr-rs6	T	C	17: 20,182,213	I295M	probably benign	Het
Fsip2	T	C	2: 82,975,505	S723P	possibly damaging	Het
Gdpd5	A	G	7: 99,458,790	I530V	possibly damaging	Het
Gm15217	T	A	14: 46,380,384		probably benign	Het
Gm4922	T	C	10: 18,783,541	T478A	probably benign	Het
Gm6614	T	C	6: 141,992,477	T239A	probably benign	Het
Gmcl1	A	T	6: 86,732,909		probably null	Het
Has1	T	C	17: 17,850,171	T163A	probably damaging	Het
Hmcn1	A	T	1: 150,677,324	N2538K	probably benign	Het
Itga2	A	G	13: 114,836,579		probably benign	Het
Kcnip1	A	T	11: 33,843,177	M5K	probably benign	Het
Kcnk4	T	C	19: 6,926,194	E329G	probably benign	Het
Kcnt1	T	C	2: 25,898,264		probably benign	Het
Klkb1	A	G	8: 45,276,063	C375R	probably damaging	Het
Loxl2	C	A	14: 69,693,078	H764N	probably benign	Het
Lrrc55	A	T	2: 85,196,245	M145K	probably damaging	Het
Lrrtm2	A	G	18: 35,212,932	I439T	probably benign	Het
Magi1	A	T	6: 93,747,245	I263N	probably damaging	Het
Map4	C	T	9: 110,067,624	P641L	probably damaging	Het
Mars	A	T	10: 127,300,034	N558K	probably damaging	Het
Mfap2	A	G	4: 141,014,983	D98G	probably damaging	Het
Mgat5b	A	G	11: 116,985,139		probably benign	Het
Mki67	A	T	7: 135,698,424	V1627D	probably benign	Het
Mtnr1a	A	T	8: 45,069,315	I36F	probably benign	Het
Myh15	A	T	16: 49,114,005	N645I	probably benign	Het
Myo7b	T	A	18: 32,014,209	I94F	probably damaging	Het
Nefh	A	T	11: 4,940,799	S607T	probably benign	Het
Ngf	T	A	3: 102,520,446	H174Q	probably benign	Het
Noa1	G	A	5: 77,297,173	Q600*	probably null	Het
Nr2f2	A	G	7: 70,358,062	V71A	possibly damaging	Het
Oas2	A	T	5: 120,738,401	F492L	probably damaging	Het
Olfr1390	A	T	11: 49,340,814	Y94F	probably benign	Het
Olfr935	T	A	9: 38,994,584	M284L	probably benign	Het
Osmr	A	G	15: 6,841,951		probably null	Het
P4ha1	A	G	10: 59,348,399	T228A	probably damaging	Het
Pip5kl1	T	C	2: 32,578,954	V195A	possibly damaging	Het
Plagl2	A	T	2: 153,231,603	D459E	probably benign	Het
Plxna1	T	C	6: 89,320,613	E1863G	probably null	Het
Prdm10	T	G	9: 31,316,159		probably benign	Het
Rgs1	T	C	1: 144,249,087		probably benign	Het
Rgsl1	A	G	1: 153,793,764	F292S	probably damaging	Het
Rhobtb2	T	C	14: 69,795,908	T538A	probably benign	Het
Rictor	A	G	15: 6,784,107	N1025D	possibly damaging	Het
Rsph10b	T	A	5: 143,938,909		probably benign	Het
Rwdd4a	A	G	8: 47,544,220	D158G	probably null	Het
Sdk1	T	C	5: 141,857,054		probably benign	Het
Serpina3n	A	C	12: 104,411,376	K296T	probably benign	Het
Snw1	A	G	12: 87,461,917	V124A	possibly damaging	Het
Tas2r137	T	G	6: 40,491,298	F21V	probably benign	Het
Tmc6	G	A	11: 117,769,448	L655F	probably damaging	Het
Tmem260	A	T	14: 48,452,047	T108S	possibly damaging	Het
Trim2	T	C	3: 84,190,776	Y406C	probably damaging	Het
Tsc1	T	C	2: 28,670,901	I257T	probably damaging	Het
Ttn	T	C	2: 76,843,402		probably benign	Het
Unc80	T	A	1: 66,521,601	N829K	possibly damaging	Het
Vmn1r235	A	C	17: 21,261,995	D194A	probably damaging	Het
Vmn2r100	A	T	17: 19,521,247		probably null	Het
Ylpm1	G	T	12: 85,028,838	R321L	probably damaging	Het
Zan	T	C	5: 137,396,766	T4381A	unknown	Het
Zfp457	A	G	13: 67,292,646	F622L	probably damaging	Het
Zfy1	T	C	Y: 726,121	H548R	possibly damaging	Het
Zmym4	A	T	4: 126,911,145	S441T	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
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
R0743:Prr14l	UTSW	5	32831194	missense	possibly damaging	0.55
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	splice site	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
R8071:Prr14l	UTSW	5	32831164	missense	probably benign	0.02
R9052:Prr14l	UTSW	5	32830134	nonsense	probably null
R9136:Prr14l	UTSW	5	32828736	missense

Predicted Primers

PCR Primer
(F):5'- TAAGTCATCTTGGGCGAGCAGCAC -3'
(R):5'- ACCCTGATCTCTATCAGCCAGCAG -3'

Sequencing Primer
(F):5'- AGCATTCCTGAGGCTCTAGAC -3'
(R):5'- TGATCTCTATCAGCCAGCAGAAAAG -3'

Posted On

2013-04-16