Mutagenetix > Incidental Mutation

Incidental Mutation 'R2915:Prr14l'

254835

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

Prl14l, 6030436E02Rik, C330019G07Rik

MMRRC Submission

040502-MU

Accession Numbers

Essential gene?

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

Stock #

R2915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32947164-33011600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32987112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 794 (H794Q)

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: H794Q

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: H794Q

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Arhgap11a	A	G	2: 113,663,853 (GRCm39)	V810A	probably damaging	Het
B3gnt6	T	C	7: 97,842,800 (GRCm39)	N387D	probably benign	Het
Col5a2	C	G	1: 45,452,656 (GRCm39)	G358R	probably damaging	Het
Cracr2a	A	G	6: 127,588,468 (GRCm39)	K209R	probably damaging	Het
Dmkn	A	G	7: 30,464,741 (GRCm39)	N32S	unknown	Het
Dusp13b	T	A	14: 21,790,205 (GRCm39)	N47I	probably damaging	Het
Elmo2	A	G	2: 165,139,573 (GRCm39)		probably benign	Het
Ephb6	T	C	6: 41,591,172 (GRCm39)	F110L	probably damaging	Het
Gabrb2	T	A	11: 42,482,734 (GRCm39)	N197K	probably benign	Het
Gdnf	T	A	15: 7,845,130 (GRCm39)	V41E	possibly damaging	Het
Gm21915	A	G	9: 40,582,083 (GRCm39)	I59V	possibly damaging	Het
Gprin2	C	T	14: 33,917,038 (GRCm39)	G244D	possibly damaging	Het
Grin2d	T	C	7: 45,482,781 (GRCm39)		probably benign	Het
Ice2	A	G	9: 69,318,122 (GRCm39)	D241G	probably benign	Het
Mios	C	T	6: 8,214,935 (GRCm39)	R44C	possibly damaging	Het
Nlrp5-ps	T	C	7: 14,320,636 (GRCm39)		noncoding transcript	Het
Nyap2	C	T	1: 81,065,188 (GRCm39)	R67*	probably null	Het
Or4d6	G	A	19: 12,085,989 (GRCm39)	P81L	probably benign	Het
Or4f14	G	T	2: 111,743,064 (GRCm39)	D70E	probably damaging	Het
Or5m8	T	A	2: 85,822,389 (GRCm39)	V76E	probably damaging	Het
Or5t9	T	C	2: 86,659,570 (GRCm39)	I158T	probably benign	Het
Or8g19	G	T	9: 39,055,762 (GRCm39)	R122L	possibly damaging	Het
Otop2	G	A	11: 115,219,972 (GRCm39)	A271T	probably benign	Het
Otulin	A	G	15: 27,619,716 (GRCm39)		probably benign	Het
Pax1	A	G	2: 147,210,348 (GRCm39)	Y361C	probably damaging	Het
Pcdhb12	A	T	18: 37,570,693 (GRCm39)	N613I	probably damaging	Het
Plekha5	A	G	6: 140,534,925 (GRCm39)	K173E	probably damaging	Het
Plin4	T	A	17: 56,411,389 (GRCm39)	T881S	probably damaging	Het
Poli	A	G	18: 70,655,771 (GRCm39)		probably null	Het
Prex2	T	A	1: 11,240,077 (GRCm39)	F898I	probably damaging	Het
Prss1	A	T	6: 41,439,545 (GRCm39)	I93F	probably benign	Het
Ptpro	C	T	6: 137,391,239 (GRCm39)		probably benign	Het
Rad1	T	C	15: 10,486,728 (GRCm39)	C42R	probably damaging	Het
Rnf20	A	G	4: 49,638,769 (GRCm39)	E197G	probably benign	Het
Setx	A	G	2: 29,062,336 (GRCm39)	E2260G	probably damaging	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Six2	A	G	17: 85,992,616 (GRCm39)	S296P	probably damaging	Het
Smg1	T	A	7: 117,810,102 (GRCm39)		probably benign	Het
Spred2	T	C	11: 19,948,215 (GRCm39)	V41A	probably damaging	Het
Ssu2	A	T	6: 112,354,566 (GRCm39)	C219*	probably null	Het
Tbc1d9b	T	A	11: 50,040,563 (GRCm39)	V360D	possibly damaging	Het
Tdrd9	G	A	12: 112,006,895 (GRCm39)	D920N	probably damaging	Het
Tyrp1	A	G	4: 80,755,692 (GRCm39)	T154A	possibly damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Wac	A	C	18: 7,926,131 (GRCm39)	M596L	possibly damaging	Het
Zfhx2	G	T	14: 55,302,014 (GRCm39)	P1990Q	probably damaging	Het
Zfp853	T	C	5: 143,275,332 (GRCm39)	E96G	unknown	Het
Zzef1	G	A	11: 72,801,152 (GRCm39)		probably null	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
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
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'- GGACTTTACTGCCTGAGCTGAC -3'
(R):5'- TGCTTCTCTGAACACAGCCAC -3'

Sequencing Primer
(F):5'- TCCGTCTCTCCAAAGTCA -3'
(R):5'- CCACTCACATGGAAACTGGTGATG -3'

Posted On

2014-12-29