Mutagenetix > Incidental Mutation

Incidental Mutation 'R6825:Prr14l'

534091

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.325) question?

Stock #

R6825 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32789820-32854256 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32828548 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1201 (V1201E)

Ref Sequence

ENSEMBL: ENSMUSP00000113259 (fasta)

Gene Model

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

AlphaFold

E9Q7C4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120129
AA Change: V1201E

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: V1201E

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

probably benign
Transcript: ENSMUST00000155392
AA Change: V44E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000119569
Gene: ENSMUSG00000054280
AA Change: V44E

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,907,880	S206T	probably benign	Het
Aasdh	A	T	5: 76,888,849		probably null	Het
Adam10	G	T	9: 70,761,602	C400F	probably damaging	Het
Ankle2	A	T	5: 110,250,769	R561S	probably null	Het
Arhgef5	C	T	6: 43,274,961	T882I	probably damaging	Het
Arpc1a	A	T	5: 145,096,126	K82*	probably null	Het
Card11	C	A	5: 140,878,082	R967L	probably benign	Het
Ccdc82	G	T	9: 13,251,976		probably benign	Het
Cebpz	T	C	17: 78,919,963	D1026G	probably damaging	Het
Cit	A	T	5: 115,981,774	Q1321L	probably damaging	Het
Clcn2	C	A	16: 20,709,658		probably benign	Het
Csf3	G	C	11: 98,702,447	G130A	probably damaging	Het
Cul2	T	A	18: 3,434,946	S737T	probably damaging	Het
Cyp1a2	G	A	9: 57,677,260	H504Y	probably benign	Het
Cyp3a44	G	A	5: 145,779,586	P398L	probably damaging	Het
Dnah8	T	C	17: 30,741,173	I2206T	probably damaging	Het
Efr3a	G	A	15: 65,829,830	V198I	probably benign	Het
Epb41l5	A	T	1: 119,620,201	D157E	possibly damaging	Het
Ercc8	T	C	13: 108,158,809	S6P	probably damaging	Het
Faxc	T	C	4: 21,931,672	S37P	probably benign	Het
Fbxl19	T	A	7: 127,750,015	I119K	probably damaging	Het
Frmd4b	A	G	6: 97,325,476	V195A	possibly damaging	Het
Fut9	A	T	4: 25,619,925	S296R	probably benign	Het
Gas6	T	C	8: 13,483,674	N112D	probably benign	Het
H2-Q1	T	C	17: 35,321,052	L99P	probably damaging	Het
Helq	A	T	5: 100,792,695	I346N	probably damaging	Het
Hepacam	A	G	9: 37,367,680	K2E	possibly damaging	Het
Itgae	T	C	11: 73,118,496	M502T	possibly damaging	Het
Kmt2a	G	A	9: 44,818,407		probably benign	Het
Lhx9	ACC	ACCC	1: 138,841,806		probably null	Het
Macf1	A	T	4: 123,383,222		probably null	Het
Mgat4a	T	A	1: 37,464,434	K220*	probably null	Het
Olfr1199	T	C	2: 88,755,911	I255V	possibly damaging	Het
Olfr1469	G	A	19: 13,411,150	V194I	probably benign	Het
Olfr224	T	C	11: 58,566,650	R232G	possibly damaging	Het
Pex5	A	T	6: 124,414,381	M18K	probably damaging	Het
Phlda3	T	C	1: 135,766,824	*126Q	probably null	Het
Plxna1	G	T	6: 89,320,615	D1862E	probably benign	Het
Pold4	A	T	19: 4,232,110	I7F	possibly damaging	Het
Prkaa1	A	T	15: 5,143,950	I19F	possibly damaging	Het
Prl7d1	T	G	13: 27,710,142	E148A	probably benign	Het
Rab3gap1	T	C	1: 127,930,421	C510R	probably damaging	Het
Rhbdf1	C	T	11: 32,209,970	R802H	probably damaging	Het
Rpl18a	A	C	8: 70,896,192	F47V	probably damaging	Het
Sema5b	C	A	16: 35,628,007		probably null	Het
Sspo	G	A	6: 48,465,525	G1985R	probably benign	Het
Tcaf2	C	T	6: 42,629,518	A501T	probably benign	Het
Tcerg1	A	G	18: 42,548,477	D563G	probably damaging	Het
Tdh	G	A	14: 63,495,832	T155M	probably damaging	Het
Tenm2	T	C	11: 36,046,884	N1654S	probably benign	Het
Tlr5	A	T	1: 182,973,044		probably benign	Het
Tns1	G	T	1: 74,002,323	C136*	probably null	Het
Tomm5	A	T	4: 45,106,443		probably null	Het
Trio	A	T	15: 27,889,308	F512I	probably damaging	Het
Ttll5	A	T	12: 85,883,328		probably null	Het
Upp1	T	A	11: 9,131,707	H81Q	probably benign	Het
Usp42	A	G	5: 143,727,807	S71P	probably damaging	Het
Vamp5	G	A	6: 72,380,441		probably benign	Het
Zap70	A	G	1: 36,778,390	Y238C	probably damaging	Het
Zfp398	A	G	6: 47,866,331	D307G	probably damaging	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
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
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

PCR Primer
(F):5'- ACTCATCTTGGTCAGCCACAG -3'
(R):5'- GATAGCACATACATCAGTGTCAAC -3'

Sequencing Primer
(F):5'- GGTCAGCCACAGGTTGCTTATC -3'
(R):5'- AGGTTTGCAAAACTTGTCACTCTC -3'

Posted On

2018-09-12