Mutagenetix > Incidental Mutation

Incidental Mutation 'R4596:Prr14l'

344380

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

Prl14l, 6030436E02Rik, C330019G07Rik

MMRRC Submission

041812-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R4596 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32947164-33011600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32986652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 948 (T948A)

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: T948A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: T948A

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

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: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,165,088 (GRCm39)	K429E	probably benign	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Adad1	T	C	3: 37,119,341 (GRCm39)	S141P	probably damaging	Het
Anapc4	T	C	5: 52,999,060 (GRCm39)	V124A	probably benign	Het
Anxa6	G	T	11: 54,885,409 (GRCm39)		probably null	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Arhgef40	T	C	14: 52,224,681 (GRCm39)		probably null	Het
Asz1	A	T	6: 18,103,592 (GRCm39)	I116K	possibly damaging	Het
Bcam	T	C	7: 19,498,082 (GRCm39)	N314D	probably damaging	Het
Cfi	T	C	3: 129,662,149 (GRCm39)	V376A	probably damaging	Het
Cipc	A	G	12: 87,008,728 (GRCm39)	T196A	probably benign	Het
Cnksr1	A	G	4: 133,961,189 (GRCm39)	V225A	possibly damaging	Het
Col4a4	G	A	1: 82,448,940 (GRCm39)	P1217S	unknown	Het
Dync2h1	C	T	9: 6,992,595 (GRCm39)	D3996N	probably benign	Het
Fasl	T	C	1: 161,615,838 (GRCm39)	N6S	probably benign	Het
Fhod3	A	T	18: 25,248,775 (GRCm39)	Q1318L	probably benign	Het
Gmps	G	T	3: 63,901,338 (GRCm39)	E386*	probably null	Het
Hspa13	C	T	16: 75,555,114 (GRCm39)	G324D	probably benign	Het
Ift80	A	G	3: 68,898,092 (GRCm39)	V81A	probably benign	Het
Itgb1bp1	C	A	12: 21,322,135 (GRCm39)	L101F	probably damaging	Het
Jak3	T	A	8: 72,137,275 (GRCm39)	S779T	probably damaging	Het
Klhl21	G	T	4: 152,096,997 (GRCm39)	R421L	probably benign	Het
Mgat4c	T	C	10: 102,224,422 (GRCm39)	F212S	probably damaging	Het
Msl3l2	T	A	10: 55,991,741 (GRCm39)	F155L	probably benign	Het
Nfat5	A	G	8: 108,078,132 (GRCm39)	K406E	possibly damaging	Het
Nsd2	A	T	5: 34,040,262 (GRCm39)	H933L	probably damaging	Het
Or4c31	A	G	2: 88,292,538 (GRCm39)	T304A	probably benign	Het
Or51h5	A	G	7: 102,577,458 (GRCm39)	T208A	possibly damaging	Het
Or6f1	A	T	7: 85,970,631 (GRCm39)	H176Q	probably damaging	Het
Or9q2	G	A	19: 13,772,264 (GRCm39)	T237I	probably damaging	Het
Paxbp1	T	C	16: 90,827,435 (GRCm39)	I467V	probably benign	Het
Pcdha8	A	C	18: 37,126,611 (GRCm39)	Q364H	possibly damaging	Het
Ptgfr	A	T	3: 151,507,430 (GRCm39)	V311D	probably damaging	Het
Ptpn13	A	G	5: 103,671,558 (GRCm39)	Y495C	probably benign	Het
Sec61g	A	T	11: 16,458,127 (GRCm39)	S23T	probably benign	Het
Sema3a	G	T	5: 13,620,125 (GRCm39)	V458F	probably damaging	Het
Slc16a14	T	A	1: 84,907,078 (GRCm39)	E65D	probably damaging	Het
Slc35f6	T	C	5: 30,805,406 (GRCm39)	M14T	probably damaging	Het
Slc4a10	A	T	2: 62,127,202 (GRCm39)	I882F	probably damaging	Het
Sox17	C	A	1: 4,562,860 (GRCm39)	E48D	possibly damaging	Het
Thbs1	A	T	2: 117,945,236 (GRCm39)	I270F	possibly damaging	Het
Tia1	A	G	6: 86,397,389 (GRCm39)	I121V	probably benign	Het
Trim30d	A	T	7: 104,121,733 (GRCm39)	H337Q	probably benign	Het
Tvp23b	G	A	11: 62,774,544 (GRCm39)	A63T	probably benign	Het
U2surp	C	T	9: 95,367,681 (GRCm39)	V437I	probably damaging	Het
Ube2i	T	C	17: 25,484,298 (GRCm39)		probably benign	Het
Vmn1r62	A	G	7: 5,678,306 (GRCm39)		probably benign	Het
Wdr3	G	A	3: 100,060,183 (GRCm39)	S310F	possibly damaging	Het
Wdr72	A	T	9: 74,058,887 (GRCm39)	M327L	probably benign	Het

Other mutations in Prr14l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Prr14l	APN	5	32,988,020 (GRCm39)	missense	probably benign	0.04
IGL00331:Prr14l	APN	5	32,988,410 (GRCm39)	missense	probably benign	0.02
IGL01571:Prr14l	APN	5	32,986,150 (GRCm39)	missense	probably benign	0.01
IGL01795:Prr14l	APN	5	32,989,189 (GRCm39)	unclassified	probably benign
IGL01929:Prr14l	APN	5	32,985,587 (GRCm39)	missense	probably benign	0.09
IGL01959:Prr14l	APN	5	32,987,549 (GRCm39)	missense	possibly damaging	0.84
IGL02139:Prr14l	APN	5	32,984,876 (GRCm39)	missense	probably damaging	1.00
IGL02321:Prr14l	APN	5	32,985,151 (GRCm39)	missense	probably benign	0.10
IGL02508:Prr14l	APN	5	32,988,286 (GRCm39)	missense	probably benign	0.01
IGL02551:Prr14l	APN	5	32,988,828 (GRCm39)	missense	probably damaging	1.00
IGL02585:Prr14l	APN	5	32,986,828 (GRCm39)	missense	possibly damaging	0.59
IGL02614:Prr14l	APN	5	32,987,887 (GRCm39)	missense	possibly damaging	0.76
IGL02808:Prr14l	APN	5	32,985,526 (GRCm39)	missense	possibly damaging	0.94
IGL02836:Prr14l	APN	5	32,988,440 (GRCm39)	missense	probably benign	0.42
IGL02952:Prr14l	APN	5	32,993,014 (GRCm39)	missense	unknown
IGL03034:Prr14l	APN	5	32,984,782 (GRCm39)	missense	possibly damaging	0.48
Polymer	UTSW	5	32,984,489 (GRCm39)	missense	probably benign	0.34
Postwar	UTSW	5	32,988,028 (GRCm39)	missense	probably benign	0.17
H8562:Prr14l	UTSW	5	32,951,072 (GRCm39)	missense	probably damaging	1.00
R0086:Prr14l	UTSW	5	32,988,903 (GRCm39)	unclassified	probably benign
R0149:Prr14l	UTSW	5	32,950,985 (GRCm39)	missense	probably damaging	1.00
R0333:Prr14l	UTSW	5	32,985,337 (GRCm39)	missense	probably damaging	1.00
R0361:Prr14l	UTSW	5	32,950,985 (GRCm39)	missense	probably damaging	1.00
R0416:Prr14l	UTSW	5	32,986,061 (GRCm39)	missense	probably benign	0.25
R0480:Prr14l	UTSW	5	32,987,224 (GRCm39)	missense	probably benign	0.02
R0511:Prr14l	UTSW	5	33,001,560 (GRCm39)	intron	probably benign
R0639:Prr14l	UTSW	5	32,986,259 (GRCm39)	missense	probably benign	0.02
R0673:Prr14l	UTSW	5	32,986,259 (GRCm39)	missense	probably benign	0.02
R0743:Prr14l	UTSW	5	32,988,538 (GRCm39)	missense	possibly damaging	0.55
R0792:Prr14l	UTSW	5	32,985,767 (GRCm39)	missense	probably damaging	1.00
R1006:Prr14l	UTSW	5	32,986,826 (GRCm39)	missense	probably benign	0.00
R1342:Prr14l	UTSW	5	32,987,604 (GRCm39)	missense	probably damaging	1.00
R1433:Prr14l	UTSW	5	32,986,177 (GRCm39)	missense	probably damaging	1.00
R1527:Prr14l	UTSW	5	32,985,293 (GRCm39)	missense	possibly damaging	0.75
R1704:Prr14l	UTSW	5	32,987,626 (GRCm39)	missense	probably benign	0.01
R1967:Prr14l	UTSW	5	33,001,813 (GRCm39)	intron	probably benign
R2129:Prr14l	UTSW	5	32,989,172 (GRCm39)	unclassified	probably benign
R2150:Prr14l	UTSW	5	32,988,046 (GRCm39)	missense	probably benign	0.14
R2318:Prr14l	UTSW	5	32,987,422 (GRCm39)	missense	probably benign	0.04
R2915:Prr14l	UTSW	5	32,987,112 (GRCm39)	missense	probably benign	0.04
R3551:Prr14l	UTSW	5	32,985,963 (GRCm39)	splice site	probably null
R3820:Prr14l	UTSW	5	32,986,328 (GRCm39)	missense	probably damaging	0.99
R3852:Prr14l	UTSW	5	32,987,689 (GRCm39)	missense	probably damaging	1.00
R4126:Prr14l	UTSW	5	32,985,347 (GRCm39)	missense	probably damaging	0.97
R4345:Prr14l	UTSW	5	32,985,920 (GRCm39)	missense	probably damaging	1.00
R4388:Prr14l	UTSW	5	32,986,598 (GRCm39)	missense	probably damaging	1.00
R4575:Prr14l	UTSW	5	32,950,988 (GRCm39)	missense	probably damaging	1.00
R4690:Prr14l	UTSW	5	33,001,500 (GRCm39)	intron	probably benign
R4824:Prr14l	UTSW	5	33,001,743 (GRCm39)	intron	probably benign
R4868:Prr14l	UTSW	5	32,987,281 (GRCm39)	missense	probably benign	0.04
R4869:Prr14l	UTSW	5	32,986,177 (GRCm39)	missense	probably damaging	1.00
R5201:Prr14l	UTSW	5	32,987,591 (GRCm39)	missense	possibly damaging	0.52
R5328:Prr14l	UTSW	5	32,987,365 (GRCm39)	missense	probably benign	0.00
R5410:Prr14l	UTSW	5	32,985,121 (GRCm39)	missense	probably damaging	0.98
R5476:Prr14l	UTSW	5	33,001,482 (GRCm39)	intron	probably benign
R5623:Prr14l	UTSW	5	33,001,852 (GRCm39)	intron	probably benign
R5730:Prr14l	UTSW	5	32,950,947 (GRCm39)	missense	probably damaging	1.00
R5988:Prr14l	UTSW	5	32,988,195 (GRCm39)	missense	probably damaging	0.98
R6261:Prr14l	UTSW	5	32,986,748 (GRCm39)	missense	possibly damaging	0.46
R6283:Prr14l	UTSW	5	32,987,608 (GRCm39)	missense	probably benign	0.14
R6307:Prr14l	UTSW	5	32,984,869 (GRCm39)	missense	probably damaging	0.97
R6825:Prr14l	UTSW	5	32,985,892 (GRCm39)	missense	possibly damaging	0.86
R6862:Prr14l	UTSW	5	32,985,103 (GRCm39)	missense	probably damaging	1.00
R6880:Prr14l	UTSW	5	32,988,211 (GRCm39)	missense	probably benign	0.01
R6931:Prr14l	UTSW	5	32,988,035 (GRCm39)	missense	probably damaging	0.98
R7101:Prr14l	UTSW	5	32,986,771 (GRCm39)	missense	probably damaging	1.00
R7164:Prr14l	UTSW	5	32,986,510 (GRCm39)	missense	probably damaging	1.00
R7203:Prr14l	UTSW	5	32,984,489 (GRCm39)	missense	probably benign	0.34
R7211:Prr14l	UTSW	5	32,987,431 (GRCm39)	missense	probably damaging	0.98
R7305:Prr14l	UTSW	5	32,988,445 (GRCm39)	missense	probably benign	0.14
R7346:Prr14l	UTSW	5	32,988,028 (GRCm39)	missense	probably benign	0.17
R7395:Prr14l	UTSW	5	32,985,982 (GRCm39)	missense	probably benign	0.00
R7624:Prr14l	UTSW	5	32,986,967 (GRCm39)	missense	possibly damaging	0.54
R7649:Prr14l	UTSW	5	32,985,589 (GRCm39)	missense	probably benign	0.18
R7753:Prr14l	UTSW	5	32,984,597 (GRCm39)	missense	probably damaging	1.00
R7828:Prr14l	UTSW	5	33,001,735 (GRCm39)	intron	probably benign
R7898:Prr14l	UTSW	5	32,987,310 (GRCm39)	missense	probably benign	0.04
R8071:Prr14l	UTSW	5	32,988,508 (GRCm39)	missense	probably benign	0.02
R9052:Prr14l	UTSW	5	32,987,478 (GRCm39)	nonsense	probably null
R9136:Prr14l	UTSW	5	32,986,080 (GRCm39)	missense
R9682:Prr14l	UTSW	5	32,988,023 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CCTTGATGCTCACAATGAATGG -3'
(R):5'- TTCCTGGTTCTGAAGAGTTCAC -3'

Sequencing Primer
(F):5'- AGATACACCTGCTCTATCCAGTG -3'
(R):5'- CTGGTTCTGAAGAGTTCACACACAG -3'

Posted On

2015-09-25