Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01959:Prr14l'

182309

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

Prl14l, 6030436E02Rik, C330019G07Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01959

Quality Score

Status

Chromosome

Chromosomal Location

32947164-33011600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32987549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 649 (S649T)

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: S649T

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: S649T

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230009I02Rik	T	C	11: 50,982,645 (GRCm39)		noncoding transcript	Het
Aip	A	G	19: 4,171,397 (GRCm39)	I13T	probably damaging	Het
Cacna2d1	C	T	5: 16,417,895 (GRCm39)	P140S	probably benign	Het
Cald1	A	G	6: 34,730,403 (GRCm39)	D40G	probably damaging	Het
Cep250	T	A	2: 155,825,279 (GRCm39)	V1052E	possibly damaging	Het
Chd1	A	G	17: 15,962,435 (GRCm39)	N731D	probably damaging	Het
Chml	C	T	1: 175,515,166 (GRCm39)	V252I	probably benign	Het
Cog8	T	C	8: 107,783,010 (GRCm39)	Y93C	probably damaging	Het
Creld1	G	A	6: 113,469,794 (GRCm39)	A399T	probably damaging	Het
Cyp2a4	T	A	7: 26,007,133 (GRCm39)	V80E	probably damaging	Het
Cyp2c37	T	A	19: 39,984,277 (GRCm39)	L255*	probably null	Het
Cyp2d12	C	A	15: 82,439,545 (GRCm39)		probably benign	Het
Dimt1	A	G	13: 107,089,963 (GRCm39)	I229V	probably benign	Het
Dsc1	G	A	18: 20,230,282 (GRCm39)	T341I	probably damaging	Het
Ercc3	T	A	18: 32,390,411 (GRCm39)	F567I	probably damaging	Het
Espl1	C	A	15: 102,214,097 (GRCm39)		probably benign	Het
Fcrl2	T	C	3: 87,166,939 (GRCm39)	D18G	probably damaging	Het
Fnip1	T	A	11: 54,381,738 (GRCm39)	S296R	possibly damaging	Het
Fzd5	C	A	1: 64,775,105 (GRCm39)	A219S	possibly damaging	Het
Gbp7	A	G	3: 142,247,108 (GRCm39)		probably benign	Het
Gm3298	T	C	14: 5,018,731 (GRCm38)	L162S	probably damaging	Het
Hspa1l	A	G	17: 35,196,111 (GRCm39)	E50G	probably damaging	Het
Ipo9	T	C	1: 135,348,093 (GRCm39)		probably null	Het
Kazn	A	G	4: 141,878,195 (GRCm39)	L185P	probably damaging	Het
Kcnh8	T	C	17: 53,141,635 (GRCm39)	S293P	probably damaging	Het
Lrp1b	T	C	2: 41,202,539 (GRCm39)	T1191A	probably damaging	Het
Mnat1	A	G	12: 73,228,705 (GRCm39)		probably benign	Het
Msx2	C	T	13: 53,622,638 (GRCm39)		probably benign	Het
Ndufs2	T	G	1: 171,064,798 (GRCm39)	I317L	probably benign	Het
Nms	T	C	1: 38,981,006 (GRCm39)		probably benign	Het
Oosp3	T	A	19: 11,678,286 (GRCm39)	F87L	probably benign	Het
Pask	A	G	1: 93,262,329 (GRCm39)	V177A	probably benign	Het
Poldip2	G	T	11: 78,403,133 (GRCm39)		probably benign	Het
Slc6a18	T	A	13: 73,825,984 (GRCm39)	N22I	probably damaging	Het
Smco2	T	A	6: 146,763,208 (GRCm39)	S228T	probably benign	Het
Speer4a1	G	A	5: 26,240,902 (GRCm39)	Q197*	probably null	Het
Speg	A	G	1: 75,367,734 (GRCm39)	K641R	probably damaging	Het
Strip2	G	A	6: 29,928,553 (GRCm39)	V286M	probably damaging	Het
Tnfrsf22	C	T	7: 143,197,012 (GRCm39)		probably null	Het
Tnpo3	A	G	6: 29,589,019 (GRCm39)		probably benign	Het
Top2b	T	A	14: 16,422,695 (GRCm38)	N1377K	probably benign	Het
Trmt1	T	A	8: 85,418,005 (GRCm39)		probably null	Het
Trpm1	A	G	7: 63,858,723 (GRCm39)	M266V	possibly damaging	Het
Vmn1r199	A	G	13: 22,567,290 (GRCm39)	T195A	probably benign	Het
Vmn2r10	A	G	5: 109,145,571 (GRCm39)	V512A	probably benign	Het
Zfp777	A	G	6: 48,021,275 (GRCm39)	F116L	probably benign	Het
Zp3r	T	A	1: 130,519,188 (GRCm39)	K253*	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
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
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

Posted On

2014-05-07