Mutagenetix > Incidental Mutation

Incidental Mutation 'R5201:Prr14l'

400773

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

Prl14l, 6030436E02Rik, C330019G07Rik

MMRRC Submission

042776-MU

Accession Numbers

Essential gene?

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

Stock #

R5201 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32947164-33011600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32987591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 635 (S635P)

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: S635P

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: S635P

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: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	C	A	15: 81,946,745 (GRCm39)	T214N	probably benign	Het
Actn4	A	T	7: 28,615,680 (GRCm39)		probably null	Het
Arap2	T	C	5: 62,840,832 (GRCm39)	E678G	probably damaging	Het
Atl2	T	C	17: 80,172,580 (GRCm39)	N130S	probably benign	Het
Cby2	A	G	14: 75,821,449 (GRCm39)	V101A	probably damaging	Het
Cyp2b10	A	G	7: 25,616,419 (GRCm39)	D342G	probably damaging	Het
Dnah6	A	G	6: 73,172,715 (GRCm39)	Y248H	possibly damaging	Het
Drd5	A	T	5: 38,477,366 (GRCm39)	M120L	probably damaging	Het
Duox1	A	G	2: 122,158,403 (GRCm39)	R629G	probably benign	Het
Dyrk1b	A	G	7: 27,884,521 (GRCm39)	Y279C	probably damaging	Het
Efemp1	A	T	11: 28,864,590 (GRCm39)	I215L	probably benign	Het
Enpp6	C	A	8: 47,518,486 (GRCm39)	Q205K	probably damaging	Het
Fam170a	A	T	18: 50,415,193 (GRCm39)	T280S	probably benign	Het
Fam222a	G	A	5: 114,749,127 (GRCm39)	A108T	possibly damaging	Het
Fgd3	G	T	13: 49,449,854 (GRCm39)	P132T	probably benign	Het
Fzr1	A	T	10: 81,203,362 (GRCm39)	L399H	probably damaging	Het
Galnt15	G	A	14: 31,771,822 (GRCm39)	R289Q	probably damaging	Het
Hira	T	C	16: 18,770,865 (GRCm39)	V834A	probably damaging	Het
Ilf3	T	C	9: 21,300,679 (GRCm39)	L93P	probably damaging	Het
Itgae	G	A	11: 73,001,382 (GRCm39)	R71Q	probably benign	Het
Itprid1	T	C	6: 55,944,991 (GRCm39)	S571P	probably benign	Het
Kif14	T	A	1: 136,431,145 (GRCm39)	S1181T	probably benign	Het
Lrig3	C	A	10: 125,849,020 (GRCm39)	P946Q	possibly damaging	Het
Macf1	A	T	4: 123,369,738 (GRCm39)	C1674*	probably null	Het
Malt1	A	G	18: 65,609,126 (GRCm39)	K710R	probably benign	Het
Man1a2	A	T	3: 100,524,328 (GRCm39)	N373K	probably benign	Het
Mpped2	A	G	2: 106,529,847 (GRCm39)	N32S	possibly damaging	Het
Mrtfb	A	C	16: 13,219,456 (GRCm39)	T701P	probably benign	Het
Myh10	A	T	11: 68,674,021 (GRCm39)	T652S	probably damaging	Het
Nfia	A	G	4: 97,999,462 (GRCm39)	Y485C	probably damaging	Het
Olfml2b	A	T	1: 170,496,433 (GRCm39)	T355S	probably benign	Het
Or10q3	A	T	19: 11,847,995 (GRCm39)	I195K	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh1	A	T	18: 38,331,971 (GRCm39)	V344D	probably damaging	Het
Plekhn1	C	A	4: 156,314,984 (GRCm39)	V558L	probably benign	Het
Prss46	T	A	9: 110,680,543 (GRCm39)	C229*	probably null	Het
Rad50	A	G	11: 53,589,647 (GRCm39)		probably null	Het
Slc27a3	A	T	3: 90,296,526 (GRCm39)	L191Q	probably benign	Het
Surf4	A	G	2: 26,823,778 (GRCm39)		probably benign	Het
Taf3	A	G	2: 9,956,995 (GRCm39)	S391P	probably damaging	Het
Tep1	A	C	14: 51,105,567 (GRCm39)	L151R	probably benign	Het
Tmprss11d	A	C	5: 86,457,214 (GRCm39)	N148K	possibly damaging	Het
Tpd52l2	G	A	2: 181,156,879 (GRCm39)	V172I	probably benign	Het
Vmn2r77	A	G	7: 86,460,846 (GRCm39)	D724G	probably damaging	Het
Wdr75	T	A	1: 45,862,519 (GRCm39)	D779E	probably benign	Het
Zfp943	A	T	17: 22,211,794 (GRCm39)	K293N	probably damaging	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
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
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'- CTAGAAAGCTGCTTTGCACTTC -3'
(R):5'- ACAAGGTGACAGAGCCTGTG -3'

Sequencing Primer
(F):5'- GAGGGTGCTCTTTTCTACAAAACC -3'
(R):5'- AGAGCCTGTGGTGCCTCTTC -3'

Posted On

2016-07-06