Mutagenetix > Incidental Mutation

Incidental Mutation 'R4345:Prr14l'

324291

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

Prl14l, 6030436E02Rik, C330019G07Rik

MMRRC Submission

041666-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R4345 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32947164-33011600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32985920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1192 (S1192P)

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: S1192P

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

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: S1192P

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

possibly damaging
Transcript: ENSMUST00000155392
AA Change: S35P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119569
Gene: ENSMUSG00000054280
AA Change: S35P

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

0.1355

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asap2	T	C	12: 21,280,832 (GRCm39)	W449R	probably damaging	Het
Astn1	T	A	1: 158,329,602 (GRCm39)		probably null	Het
C3ar1	T	C	6: 122,827,659 (GRCm39)	D186G	probably damaging	Het
Fbf1	A	G	11: 116,038,568 (GRCm39)	V851A	probably benign	Het
Foxp4	G	A	17: 48,185,573 (GRCm39)	T500M	unknown	Het
Gm5878	G	A	6: 85,102,633 (GRCm39)	R31*	probably null	Het
Gramd4	T	C	15: 86,019,094 (GRCm39)	S581P	probably damaging	Het
Heatr5b	A	T	17: 79,067,940 (GRCm39)	V1816E	possibly damaging	Het
Igf2r	C	T	17: 12,928,398 (GRCm39)	E982K	possibly damaging	Het
Il1r1	A	G	1: 40,337,084 (GRCm39)	D224G	probably benign	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Lactb2	T	A	1: 13,730,574 (GRCm39)	Y34F	probably damaging	Het
Lepr	G	A	4: 101,622,349 (GRCm39)		probably null	Het
Loxhd1	A	G	18: 77,486,697 (GRCm39)	I1261V	possibly damaging	Het
Map4k3	A	G	17: 80,904,980 (GRCm39)		probably null	Het
Mcee	T	C	7: 64,061,686 (GRCm39)	L109P	probably damaging	Het
Mier3	A	G	13: 111,841,817 (GRCm39)	D124G	probably damaging	Het
Mrpl43	T	C	19: 44,994,549 (GRCm39)	Y64C	probably damaging	Het
Nfasc	A	G	1: 132,559,443 (GRCm39)	F229S	probably damaging	Het
Nsd3	G	C	8: 26,131,333 (GRCm39)	G233R	probably benign	Het
Or2ak7	A	G	11: 58,574,771 (GRCm39)	D24G	possibly damaging	Het
Or8k27	T	A	2: 86,276,189 (GRCm39)	I46F	probably damaging	Het
Pdzd8	T	C	19: 59,288,560 (GRCm39)	T947A	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Pno1	A	G	11: 17,159,095 (GRCm39)	S158P	possibly damaging	Het
Setbp1	T	A	18: 79,129,794 (GRCm39)	E146V	probably damaging	Het
Slc9a5	T	C	8: 106,076,087 (GRCm39)	S27P	probably benign	Het
Sri	G	T	5: 8,109,427 (GRCm39)		probably null	Het
Stard9	G	A	2: 120,532,427 (GRCm39)	V2895I	probably benign	Het
Tgfbrap1	T	C	1: 43,095,866 (GRCm39)	D524G	probably benign	Het
Them4	A	G	3: 94,237,172 (GRCm39)	T211A	possibly damaging	Het
Thoc2l	A	G	5: 104,669,315 (GRCm39)	E1279G	probably benign	Het
Trpm3	A	T	19: 22,875,061 (GRCm39)	S568C	probably damaging	Het
Ttl	T	C	2: 128,917,778 (GRCm39)	L80P	probably damaging	Het
Ttn	G	T	2: 76,586,660 (GRCm39)	N13423K	possibly damaging	Het
Usp10	T	A	8: 120,681,553 (GRCm39)	L670Q	probably damaging	Het
Usp4	T	A	9: 108,245,222 (GRCm39)		probably benign	Het
Vmn1r72	T	A	7: 11,403,963 (GRCm39)	T162S	possibly damaging	Het
Zmym5	T	C	14: 57,034,083 (GRCm39)	N376S	probably benign	Het
Zswim6	G	T	13: 107,863,466 (GRCm39)		noncoding transcript	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
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
R4596:Prr14l	UTSW	5	32,986,652 (GRCm39)	missense	probably benign	0.01
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'- GCAATTCTGTCCTTGGATGGC -3'
(R):5'- AGGTTTGCAAAACTTGTCACTC -3'

Sequencing Primer
(F):5'- GATGGACTCATCTTGGTCAGCC -3'
(R):5'- TGCAAAACTTGTCACTCTCTTAAG -3'

Posted On

2015-06-24