Mutagenetix > Incidental Mutation

Incidental Mutation 'R0361:Prr14l'

66479

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

MMRRC Submission

038567-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

R0361 (G1)

Quality Score

225

Status

Not 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: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

100% (1/1)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	G	3: 124,413,634	T303P	possibly damaging	Het
1700010I14Rik	G	T	17: 8,992,546	V176L	probably benign	Het
1700034J05Rik	T	C	6: 146,952,371	T262A	possibly damaging	Het
Adgrl3	A	T	5: 81,760,697	I1165F	probably damaging	Het
Ankhd1	T	C	18: 36,647,214	I1773T	probably damaging	Het
Api5	A	T	2: 94,423,497	L287*	probably null	Het
Apol10b	A	T	15: 77,585,386	M197K	possibly damaging	Het
Bcl2	G	A	1: 106,712,694	R63W	probably damaging	Het
Cacna1h	A	G	17: 25,389,422	M731T	probably damaging	Het
Cav1	C	A	6: 17,339,353	R146S	possibly damaging	Het
Cdhr2	A	T	13: 54,734,007	I1118F	probably damaging	Het
Cdk7	A	T	13: 100,711,554	Y153*	probably null	Het
Cemip	A	G	7: 83,964,010	I660T	probably benign	Het
Cfap65	A	T	1: 74,925,440	L518Q	probably damaging	Het
Cngb3	A	G	4: 19,366,467	H176R	probably benign	Het
Cux1	T	A	5: 136,279,497	I1263F	probably damaging	Het
Dnajc13	A	G	9: 104,167,059	M1867T	probably benign	Het
Dock2	A	G	11: 34,438,327	L202P	probably damaging	Het
Dyrk3	A	G	1: 131,130,032	S100P	probably benign	Het
Efr3b	A	T	12: 3,977,923	S376T	probably benign	Het
Eps8l2	A	C	7: 141,356,199	N222T	probably benign	Het
Ermp1	A	T	19: 29,631,406	Y158N	probably damaging	Het
Fam13a	A	G	6: 58,987,174	V91A	probably benign	Het
Fat3	A	G	9: 15,998,403	V2101A	possibly damaging	Het
Fsip2	T	C	2: 82,975,505	S723P	possibly damaging	Het
Garem1	G	T	18: 21,299,744	C9*	probably null	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
Gm5483	T	C	16: 36,184,278	S7P	probably damaging	Het
H2-M5	A	G	17: 36,987,436	I329T	possibly damaging	Het
Ing4	G	A	6: 125,047,894	C200Y	probably damaging	Het
Kcnip1	A	T	11: 33,843,177	M5K	probably benign	Het
Kdsr	T	C	1: 106,747,787	E102G	probably damaging	Het
Krt15	C	T	11: 100,133,181	V346M	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lrrc55	A	T	2: 85,196,245	M145K	probably damaging	Het
Lrrtm2	A	G	18: 35,212,932	I439T	probably benign	Het
Map2k6	T	C	11: 110,499,509	F290L	probably damaging	Het
Mb21d1	T	A	9: 78,433,252	K399N	probably damaging	Het
Me1	T	A	9: 86,651,002	I136F	probably damaging	Het
Mfap2	A	G	4: 141,014,983	D98G	probably damaging	Het
Mfsd13a	C	T	19: 46,366,504	T40I	probably benign	Het
Mst1	T	C	9: 108,084,897	F696L	probably damaging	Het
Mta1	A	G	12: 113,133,341		probably null	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
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
Olfm3	T	A	3: 115,120,973	D211E	probably damaging	Het
Olfr1390	A	T	11: 49,340,814	Y94F	probably benign	Het
Osmr	A	G	15: 6,841,951		probably null	Het
Plagl2	A	T	2: 153,231,603	D459E	probably benign	Het
Plch2	T	C	4: 155,006,711	D148G	possibly damaging	Het
Plxnc1	C	A	10: 94,865,007	C605F	probably damaging	Het
Ppm1m	T	C	9: 106,198,126	E108G	probably damaging	Het
Ralgapa1	A	G	12: 55,676,569	I1771T	possibly damaging	Het
Rhobtb2	T	C	14: 69,795,908	T538A	probably benign	Het
Rictor	A	G	15: 6,784,107	N1025D	possibly damaging	Het
Sec23a	T	G	12: 58,991,018	D324A	probably damaging	Het
Srgap1	A	T	10: 122,047,192	M1K	probably null	Het
Syne2	T	A	12: 75,918,610	F801I	probably benign	Het
Synrg	T	A	11: 84,024,337		probably null	Het
Tas2r137	T	G	6: 40,491,298	F21V	probably benign	Het
Tmem260	A	T	14: 48,452,047	T108S	possibly damaging	Het
Trim2	T	C	3: 84,190,776	Y406C	probably damaging	Het
Ttn	T	C	2: 76,843,402		probably benign	Het
Vmn1r53	A	T	6: 90,224,082	S87T	possibly damaging	Het
Vmn2r115	T	A	17: 23,345,222	Y123N	probably benign	Het
Vmn2r28	T	A	7: 5,493,716	I46F	probably benign	Het
Zan	T	C	5: 137,396,766	T4381A	unknown	Het
Zfp457	A	G	13: 67,292,646	F622L	probably damaging	Het
Zfp994	A	T	17: 22,200,110	N619K	probably benign	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
R0149:Prr14l	UTSW	5	32793641	missense	probably damaging	1.00
R0333:Prr14l	UTSW	5	32827993	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
R9682:Prr14l	UTSW	5	32830679	missense	probably benign	0.02

Predicted Primers

Posted On

2013-08-19