Mutagenetix > Incidental Mutation

Incidental Mutation 'R7395:Prr14l'

573720

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

MMRRC Submission

045477-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.269) question?

Stock #

R7395 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32789820-32854256 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32828638 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1171 (L1171P)

Ref Sequence

ENSEMBL: ENSMUSP00000113259 (fasta)

Gene Model

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

AlphaFold

E9Q7C4

Predicted Effect

probably benign
Transcript: ENSMUST00000120129
AA Change: L1171P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: L1171P

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 damaging
Transcript: ENSMUST00000155392
AA Change: L14P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119569
Gene: ENSMUSG00000054280
AA Change: L14P

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: 99.6%
20x: 98.8%

Validation Efficiency

99% (92/93)

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 56,138,780 (GRCm38)		probably null	Het
4930433I11Rik	A	T	7: 40,989,678 (GRCm38)	T13S	probably damaging	Het
Abca13	A	G	11: 9,291,658 (GRCm38)	I1174V	probably benign	Het
Acoxl	G	A	2: 127,884,416 (GRCm38)	V237M	probably damaging	Het
Adam33	A	C	2: 131,061,169 (GRCm38)	W52G	probably benign	Het
Adgrv1	T	C	13: 81,559,348 (GRCm38)	H1313R	probably damaging	Het
Ap3d1	T	C	10: 80,730,882 (GRCm38)	T89A	probably benign	Het
Armc8	T	C	9: 99,533,132 (GRCm38)	E165G	probably damaging	Het
Atp6v1c1	T	C	15: 38,691,705 (GRCm38)	*383Q	probably null	Het
Atp8b4	A	T	2: 126,375,694 (GRCm38)	L634Q	possibly damaging	Het
B3glct	A	G	5: 149,725,604 (GRCm38)		probably null	Het
Bhlhe40	TG	TGG	6: 108,664,857 (GRCm38)	254	probably null	Het
Bicd2	A	G	13: 49,378,230 (GRCm38)	D316G	possibly damaging	Het
Bop1	A	T	15: 76,453,841 (GRCm38)	S610T	probably damaging	Het
Car11	T	A	7: 45,701,321 (GRCm38)	Y80*	probably null	Het
Ccdc96	T	C	5: 36,485,265 (GRCm38)	I205T	probably benign	Het
Ces2a	A	G	8: 104,739,641 (GRCm38)	E390G	probably benign	Het
Cfap54	C	A	10: 92,884,703 (GRCm38)	V2630L	unknown	Het
Chek2	G	T	5: 110,872,108 (GRCm38)		probably null	Het
Cntn3	C	T	6: 102,337,394 (GRCm38)		probably null	Het
Cpne3	A	T	4: 19,528,239 (GRCm38)	D339E	probably damaging	Het
Crocc2	C	T	1: 93,216,107 (GRCm38)	Q1403*	probably null	Het
Csnka2ip	G	A	16: 64,479,440 (GRCm38)	T187I		Het
Ctu1	A	G	7: 43,676,595 (GRCm38)	H226R	possibly damaging	Het
Cubn	G	T	2: 13,287,064 (GRCm38)	Q3317K	probably damaging	Het
Cyp17a1	A	G	19: 46,670,695 (GRCm38)	L169P	probably benign	Het
Dcc	T	A	18: 71,374,569 (GRCm38)	K911*	probably null	Het
Dcun1d2	G	A	8: 13,278,675 (GRCm38)	R75*	probably null	Het
Defb19	A	T	2: 152,580,023 (GRCm38)		probably null	Het
Dffb	A	T	4: 153,969,113 (GRCm38)	S257R	probably damaging	Het
Dip2c	A	C	13: 9,614,377 (GRCm38)	N942T	probably damaging	Het
Dnah3	T	A	7: 119,966,251 (GRCm38)	I169F		Het
Dnah3	T	C	7: 120,060,960 (GRCm38)	M830V	probably benign	Het
Dnajc5g	G	A	5: 31,111,665 (GRCm38)	S130N	possibly damaging	Het
Dscaml1	C	A	9: 45,702,405 (GRCm38)	Q939K	possibly damaging	Het
Evpl	G	C	11: 116,227,079 (GRCm38)	N761K	possibly damaging	Het
Fbxw8	A	T	5: 118,068,215 (GRCm38)	I556N	probably damaging	Het
Fry	G	T	5: 150,380,883 (GRCm38)	M579I	possibly damaging	Het
Ggt7	A	T	2: 155,495,880 (GRCm38)	M488K	probably benign	Het
Gm6588	A	T	5: 112,450,169 (GRCm38)	E194V	possibly damaging	Het
Gnpnat1	T	A	14: 45,381,581 (GRCm38)	H107L	probably benign	Het
Golga2	C	A	2: 32,305,587 (GRCm38)	P798Q	possibly damaging	Het
Gpr35	G	A	1: 92,983,207 (GRCm38)	A214T	probably damaging	Het
Greb1	A	T	12: 16,709,430 (GRCm38)		probably null	Het
Hdac10	G	A	15: 89,128,284 (GRCm38)	T32I	probably benign	Het
Hkdc1	G	A	10: 62,385,699 (GRCm38)	T860I	probably damaging	Het
Icam5	C	A	9: 21,035,442 (GRCm38)	P422Q	possibly damaging	Het
Ispd	A	T	12: 36,501,995 (GRCm38)	I283F	possibly damaging	Het
Ist1	A	C	8: 109,677,527 (GRCm38)	S238A	probably benign	Het
Lrig2	T	C	3: 104,497,520 (GRCm38)	N91D	probably benign	Het
Mapt	A	C	11: 104,328,123 (GRCm38)	D352A	probably damaging	Het
Micall2	G	A	5: 139,716,369 (GRCm38)	P373L	possibly damaging	Het
Mocs1	A	G	17: 49,454,557 (GRCm38)	S560G	possibly damaging	Het
Mpo	A	G	11: 87,801,124 (GRCm38)	D461G	probably damaging	Het
Myo1a	G	T	10: 127,710,440 (GRCm38)	V271L	probably damaging	Het
Ncoa1	G	A	12: 4,295,188 (GRCm38)	P720S	not run	Het
Ncr1	T	A	7: 4,338,151 (GRCm38)	I47N	probably damaging	Het
Ndufb6	G	A	4: 40,277,730 (GRCm38)	R66C	probably damaging	Het
Obox5	A	T	7: 15,758,743 (GRCm38)	S208C	probably damaging	Het
Olfr136	A	T	17: 38,335,864 (GRCm38)	K236*	probably null	Het
Olfr1494	T	C	19: 13,749,138 (GRCm38)	S11P	probably damaging	Het
Olfr39	T	A	9: 20,286,530 (GRCm38)	M285K	probably damaging	Het
Olfr501-ps1	T	A	7: 108,508,404 (GRCm38)	F116Y	unknown	Het
Padi4	A	C	4: 140,761,672 (GRCm38)	V152G	probably damaging	Het
Pdzd7	A	T	19: 45,037,011 (GRCm38)	D348E	probably damaging	Het
Pdzph1	T	A	17: 58,879,159 (GRCm38)	K1212N	possibly damaging	Het
Piezo2	C	T	18: 63,027,563 (GRCm38)	G2341R	probably damaging	Het
Plb1	A	G	5: 32,353,684 (GRCm38)	K1298E	probably benign	Het
Rab11fip5	T	C	6: 85,341,868 (GRCm38)	T680A	probably benign	Het
Rev1	A	T	1: 38,088,065 (GRCm38)	N371K	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,926 (GRCm38)		probably benign	Het
Ryr2	A	G	13: 11,785,111 (GRCm38)	C917R	probably damaging	Het
Sall1	A	T	8: 89,030,921 (GRCm38)	S852T	possibly damaging	Het
Serpine2	A	G	1: 79,801,555 (GRCm38)	F296L	probably damaging	Het
Slc12a6	A	T	2: 112,352,542 (GRCm38)	N754I	probably damaging	Het
Slc39a6	A	T	18: 24,585,275 (GRCm38)	L575Q	probably damaging	Het
Smarcc2	T	A	10: 128,485,606 (GRCm38)	L890Q	probably damaging	Het
Smg5	T	A	3: 88,361,071 (GRCm38)	V1006D	probably damaging	Het
Ssh2	T	C	11: 77,393,073 (GRCm38)	V51A	probably damaging	Het
St14	T	C	9: 31,096,899 (GRCm38)	K547E	probably benign	Het
Stag1	T	G	9: 100,796,728 (GRCm38)	V234G	probably damaging	Het
Stag3	A	T	5: 138,281,945 (GRCm38)	Q24L	probably benign	Het
Stra6	T	C	9: 58,141,097 (GRCm38)	Y158H	probably damaging	Het
Tcstv1	A	T	13: 119,894,130 (GRCm38)		probably null	Het
Tmem196	G	A	12: 120,011,267 (GRCm38)	C62Y	probably damaging	Het
Tmem265	T	A	7: 127,564,867 (GRCm38)	F84L		Het
Tph1	C	T	7: 46,657,203 (GRCm38)		probably null	Het
Ttn	A	G	2: 76,946,490 (GRCm38)	I1522T	unknown	Het
Ulk4	T	A	9: 121,255,112 (GRCm38)	Q129L	probably benign	Het
Usp17la	T	A	7: 104,861,585 (GRCm38)	S466T	probably benign	Het
Vmn2r31	A	T	7: 7,384,745 (GRCm38)	V609E	probably damaging	Het
Vmn2r52	C	T	7: 10,170,817 (GRCm38)	C365Y	probably benign	Het
Zbtb4	A	T	11: 69,776,111 (GRCm38)	T81S	possibly damaging	Het
Zfp605	A	T	5: 110,112,019 (GRCm38)		probably benign	Het

Other mutations in Prr14l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Prr14l	APN	5	32,830,676 (GRCm38)	missense	probably benign	0.04
IGL00331:Prr14l	APN	5	32,831,066 (GRCm38)	missense	probably benign	0.02
IGL01571:Prr14l	APN	5	32,828,806 (GRCm38)	missense	probably benign	0.01
IGL01795:Prr14l	APN	5	32,831,845 (GRCm38)	unclassified	probably benign
IGL01929:Prr14l	APN	5	32,828,243 (GRCm38)	missense	probably benign	0.09
IGL01959:Prr14l	APN	5	32,830,205 (GRCm38)	missense	possibly damaging	0.84
IGL02139:Prr14l	APN	5	32,827,532 (GRCm38)	missense	probably damaging	1.00
IGL02321:Prr14l	APN	5	32,827,807 (GRCm38)	missense	probably benign	0.10
IGL02508:Prr14l	APN	5	32,830,942 (GRCm38)	missense	probably benign	0.01
IGL02551:Prr14l	APN	5	32,831,484 (GRCm38)	missense	probably damaging	1.00
IGL02585:Prr14l	APN	5	32,829,484 (GRCm38)	missense	possibly damaging	0.59
IGL02614:Prr14l	APN	5	32,830,543 (GRCm38)	missense	possibly damaging	0.76
IGL02808:Prr14l	APN	5	32,828,182 (GRCm38)	missense	possibly damaging	0.94
IGL02836:Prr14l	APN	5	32,831,096 (GRCm38)	missense	probably benign	0.42
IGL02952:Prr14l	APN	5	32,835,670 (GRCm38)	missense	unknown
IGL03034:Prr14l	APN	5	32,827,438 (GRCm38)	missense	possibly damaging	0.48
Polymer	UTSW	5	32,827,145 (GRCm38)	missense	probably benign	0.34
Postwar	UTSW	5	32,830,684 (GRCm38)	missense	probably benign	0.17
H8562:Prr14l	UTSW	5	32,793,728 (GRCm38)	missense	probably damaging	1.00
R0086:Prr14l	UTSW	5	32,831,559 (GRCm38)	unclassified	probably benign
R0149:Prr14l	UTSW	5	32,793,641 (GRCm38)	missense	probably damaging	1.00
R0333:Prr14l	UTSW	5	32,827,993 (GRCm38)	missense	probably damaging	1.00
R0361:Prr14l	UTSW	5	32,793,641 (GRCm38)	missense	probably damaging	1.00
R0416:Prr14l	UTSW	5	32,828,717 (GRCm38)	missense	probably benign	0.25
R0480:Prr14l	UTSW	5	32,829,880 (GRCm38)	missense	probably benign	0.02
R0511:Prr14l	UTSW	5	32,844,216 (GRCm38)	intron	probably benign
R0639:Prr14l	UTSW	5	32,828,915 (GRCm38)	missense	probably benign	0.02
R0673:Prr14l	UTSW	5	32,828,915 (GRCm38)	missense	probably benign	0.02
R0743:Prr14l	UTSW	5	32,831,194 (GRCm38)	missense	possibly damaging	0.55
R0792:Prr14l	UTSW	5	32,828,423 (GRCm38)	missense	probably damaging	1.00
R1006:Prr14l	UTSW	5	32,829,482 (GRCm38)	missense	probably benign	0.00
R1342:Prr14l	UTSW	5	32,830,260 (GRCm38)	missense	probably damaging	1.00
R1433:Prr14l	UTSW	5	32,828,833 (GRCm38)	missense	probably damaging	1.00
R1527:Prr14l	UTSW	5	32,827,949 (GRCm38)	missense	possibly damaging	0.75
R1704:Prr14l	UTSW	5	32,830,282 (GRCm38)	missense	probably benign	0.01
R1967:Prr14l	UTSW	5	32,844,469 (GRCm38)	intron	probably benign
R2129:Prr14l	UTSW	5	32,831,828 (GRCm38)	unclassified	probably benign
R2150:Prr14l	UTSW	5	32,830,702 (GRCm38)	missense	probably benign	0.14
R2318:Prr14l	UTSW	5	32,830,078 (GRCm38)	missense	probably benign	0.04
R2915:Prr14l	UTSW	5	32,829,768 (GRCm38)	missense	probably benign	0.04
R3551:Prr14l	UTSW	5	32,828,619 (GRCm38)	splice site	probably null
R3820:Prr14l	UTSW	5	32,828,984 (GRCm38)	missense	probably damaging	0.99
R3852:Prr14l	UTSW	5	32,830,345 (GRCm38)	missense	probably damaging	1.00
R4126:Prr14l	UTSW	5	32,828,003 (GRCm38)	missense	probably damaging	0.97
R4345:Prr14l	UTSW	5	32,828,576 (GRCm38)	missense	probably damaging	1.00
R4388:Prr14l	UTSW	5	32,829,254 (GRCm38)	missense	probably damaging	1.00
R4575:Prr14l	UTSW	5	32,793,644 (GRCm38)	missense	probably damaging	1.00
R4596:Prr14l	UTSW	5	32,829,308 (GRCm38)	missense	probably benign	0.01
R4690:Prr14l	UTSW	5	32,844,156 (GRCm38)	intron	probably benign
R4824:Prr14l	UTSW	5	32,844,399 (GRCm38)	intron	probably benign
R4868:Prr14l	UTSW	5	32,829,937 (GRCm38)	missense	probably benign	0.04
R4869:Prr14l	UTSW	5	32,828,833 (GRCm38)	missense	probably damaging	1.00
R5201:Prr14l	UTSW	5	32,830,247 (GRCm38)	missense	possibly damaging	0.52
R5328:Prr14l	UTSW	5	32,830,021 (GRCm38)	missense	probably benign	0.00
R5410:Prr14l	UTSW	5	32,827,777 (GRCm38)	missense	probably damaging	0.98
R5476:Prr14l	UTSW	5	32,844,138 (GRCm38)	intron	probably benign
R5623:Prr14l	UTSW	5	32,844,508 (GRCm38)	intron	probably benign
R5730:Prr14l	UTSW	5	32,793,603 (GRCm38)	missense	probably damaging	1.00
R5988:Prr14l	UTSW	5	32,830,851 (GRCm38)	missense	probably damaging	0.98
R6261:Prr14l	UTSW	5	32,829,404 (GRCm38)	missense	possibly damaging	0.46
R6283:Prr14l	UTSW	5	32,830,264 (GRCm38)	missense	probably benign	0.14
R6307:Prr14l	UTSW	5	32,827,525 (GRCm38)	missense	probably damaging	0.97
R6825:Prr14l	UTSW	5	32,828,548 (GRCm38)	missense	possibly damaging	0.86
R6862:Prr14l	UTSW	5	32,827,759 (GRCm38)	missense	probably damaging	1.00
R6880:Prr14l	UTSW	5	32,830,867 (GRCm38)	missense	probably benign	0.01
R6931:Prr14l	UTSW	5	32,830,691 (GRCm38)	missense	probably damaging	0.98
R7101:Prr14l	UTSW	5	32,829,427 (GRCm38)	missense	probably damaging	1.00
R7164:Prr14l	UTSW	5	32,829,166 (GRCm38)	missense	probably damaging	1.00
R7203:Prr14l	UTSW	5	32,827,145 (GRCm38)	missense	probably benign	0.34
R7211:Prr14l	UTSW	5	32,830,087 (GRCm38)	missense	probably damaging	0.98
R7305:Prr14l	UTSW	5	32,831,101 (GRCm38)	missense	probably benign	0.14
R7346:Prr14l	UTSW	5	32,830,684 (GRCm38)	missense	probably benign	0.17
R7624:Prr14l	UTSW	5	32,829,623 (GRCm38)	missense	possibly damaging	0.54
R7649:Prr14l	UTSW	5	32,828,245 (GRCm38)	missense	probably benign	0.18
R7753:Prr14l	UTSW	5	32,827,253 (GRCm38)	missense	probably damaging	1.00
R7828:Prr14l	UTSW	5	32,844,391 (GRCm38)	intron	probably benign
R7898:Prr14l	UTSW	5	32,829,966 (GRCm38)	missense	probably benign	0.04
R8071:Prr14l	UTSW	5	32,831,164 (GRCm38)	missense	probably benign	0.02
R9052:Prr14l	UTSW	5	32,830,134 (GRCm38)	nonsense	probably null
R9136:Prr14l	UTSW	5	32,828,736 (GRCm38)	missense
R9682:Prr14l	UTSW	5	32,830,679 (GRCm38)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TTGTCCCAGCAGTGCATGTG -3'
(R):5'- ATTGCACAGTCCTTTCTGACATG -3'

Sequencing Primer
(F):5'- GTGCCCTTTTGATATGTACATGC -3'
(R):5'- ACAGTCCTTTCTGACATGAAGGC -3'

Posted On

2019-09-13