Mutagenetix > Incidental Mutation

Incidental Mutation 'R3551:Prr14l'

473003

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

MMRRC Submission

040668-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.269) question?

Stock #

R3551 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32789820-32854256 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 32828619 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120129] [ENSMUST00000144673] [ENSMUST00000155392]

AlphaFold

E9Q7C4

Predicted Effect

silent
Transcript: ENSMUST00000120129

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280

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 null
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

silent
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: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,261,624 (GRCm38)	Y866N	probably damaging	Het
Adam24	G	C	8: 40,679,593 (GRCm38)	W33C	probably benign	Het
Adgrl2	A	T	3: 148,858,963 (GRCm38)	V327E	probably damaging	Het
Aqp7	T	A	4: 41,045,329 (GRCm38)	N17I	probably benign	Het
Bicra	T	A	7: 15,979,733 (GRCm38)	Q848L	probably benign	Het
C4b	T	C	17: 34,741,872 (GRCm38)	E240G	possibly damaging	Het
Ccni	T	C	5: 93,187,761 (GRCm38)	S173G	probably benign	Het
Clca3a2	T	A	3: 144,803,081 (GRCm38)	N50I	probably damaging	Het
Dcaf7	A	G	11: 106,054,796 (GRCm38)	T324A	probably benign	Het
Dnah12	G	A	14: 26,770,972 (GRCm38)	R1230H	probably benign	Het
Dsg4	G	A	18: 20,451,756 (GRCm38)	V176M	probably damaging	Het
Ect2l	A	G	10: 18,163,393 (GRCm38)	I339T	probably damaging	Het
Edc4	A	T	8: 105,885,494 (GRCm38)	I138F	probably damaging	Het
Ercc6l2	T	A	13: 63,844,595 (GRCm38)	V401E	probably damaging	Het
Gm3269	T	A	14: 4,845,893 (GRCm38)	V260D	possibly damaging	Het
Gm4076	C	T	13: 85,127,150 (GRCm38)		noncoding transcript	Het
Gm4922	A	T	10: 18,784,496 (GRCm38)	N159K	probably benign	Het
Gm5134	G	T	10: 76,000,447 (GRCm38)	A421S	probably benign	Het
Gm5724	T	C	6: 141,708,596 (GRCm38)	K647E	probably benign	Het
Hrc	G	C	7: 45,336,333 (GRCm38)	E303Q	possibly damaging	Het
Ipo4	A	G	14: 55,633,103 (GRCm38)	V288A	probably benign	Het
Kng2	A	G	16: 23,011,995 (GRCm38)		probably null	Het
Lrfn1	T	C	7: 28,460,054 (GRCm38)	L466P	possibly damaging	Het
Magi1	T	A	6: 93,699,629 (GRCm38)	K916N	probably damaging	Het
Mms19	T	C	19: 41,949,798 (GRCm38)	T720A	probably benign	Het
Muc5b	A	G	7: 141,861,335 (GRCm38)	T2673A	possibly damaging	Het
Myo15	C	T	11: 60,509,663 (GRCm38)	A1767V	possibly damaging	Het
Npas2	A	T	1: 39,287,562 (GRCm38)	M43L	probably benign	Het
Nup43	A	G	10: 7,675,014 (GRCm38)	D216G	possibly damaging	Het
Olfr378	T	C	11: 73,425,852 (GRCm38)	I44V	probably benign	Het
Orc4	G	A	2: 48,937,489 (GRCm38)	P31S	probably benign	Het
Pcdhga6	G	T	18: 37,708,217 (GRCm38)	R330L	probably benign	Het
Pear1	A	G	3: 87,758,132 (GRCm38)	F145L	probably benign	Het
Pgap1	A	G	1: 54,530,143 (GRCm38)	S355P	possibly damaging	Het
Ptpn12	T	C	5: 20,989,049 (GRCm38)	K742E	possibly damaging	Het
Ryr1	T	A	7: 29,056,997 (GRCm38)	Q3464L	probably damaging	Het
Sema4c	G	C	1: 36,553,723 (GRCm38)	T138S	probably benign	Het
Slc4a2	C	T	5: 24,430,101 (GRCm38)	T168M	probably benign	Het
Spice1	G	T	16: 44,357,869 (GRCm38)	S85I	probably damaging	Het
Thrb	T	A	14: 17,963,214 (GRCm38)	I59N	probably damaging	Het
Trav7-1	A	G	14: 52,655,299 (GRCm38)	D103G	probably damaging	Het
Ubap2l	G	T	3: 90,015,451 (GRCm38)	T766N	unknown	Het
Zfp692	C	T	11: 58,309,428 (GRCm38)	T170I	possibly damaging	Het
Zfp704	A	G	3: 9,474,525 (GRCm38)	V255A	probably damaging	Het
Zfp759	T	C	13: 67,138,967 (GRCm38)	V194A	probably benign	Het

Other mutations in Prr14l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Prr14l	APN	5	32,830,676 (GRCm38)	missense	probably benign	0.04
IGL00331:Prr14l	APN	5	32,831,066 (GRCm38)	missense	probably benign	0.02
IGL01571:Prr14l	APN	5	32,828,806 (GRCm38)	missense	probably benign	0.01
IGL01795:Prr14l	APN	5	32,831,845 (GRCm38)	unclassified	probably benign
IGL01929:Prr14l	APN	5	32,828,243 (GRCm38)	missense	probably benign	0.09
IGL01959:Prr14l	APN	5	32,830,205 (GRCm38)	missense	possibly damaging	0.84
IGL02139:Prr14l	APN	5	32,827,532 (GRCm38)	missense	probably damaging	1.00
IGL02321:Prr14l	APN	5	32,827,807 (GRCm38)	missense	probably benign	0.10
IGL02508:Prr14l	APN	5	32,830,942 (GRCm38)	missense	probably benign	0.01
IGL02551:Prr14l	APN	5	32,831,484 (GRCm38)	missense	probably damaging	1.00
IGL02585:Prr14l	APN	5	32,829,484 (GRCm38)	missense	possibly damaging	0.59
IGL02614:Prr14l	APN	5	32,830,543 (GRCm38)	missense	possibly damaging	0.76
IGL02808:Prr14l	APN	5	32,828,182 (GRCm38)	missense	possibly damaging	0.94
IGL02836:Prr14l	APN	5	32,831,096 (GRCm38)	missense	probably benign	0.42
IGL02952:Prr14l	APN	5	32,835,670 (GRCm38)	missense	unknown
IGL03034:Prr14l	APN	5	32,827,438 (GRCm38)	missense	possibly damaging	0.48
Polymer	UTSW	5	32,827,145 (GRCm38)	missense	probably benign	0.34
Postwar	UTSW	5	32,830,684 (GRCm38)	missense	probably benign	0.17
H8562:Prr14l	UTSW	5	32,793,728 (GRCm38)	missense	probably damaging	1.00
R0086:Prr14l	UTSW	5	32,831,559 (GRCm38)	unclassified	probably benign
R0149:Prr14l	UTSW	5	32,793,641 (GRCm38)	missense	probably damaging	1.00
R0333:Prr14l	UTSW	5	32,827,993 (GRCm38)	missense	probably damaging	1.00
R0361:Prr14l	UTSW	5	32,793,641 (GRCm38)	missense	probably damaging	1.00
R0416:Prr14l	UTSW	5	32,828,717 (GRCm38)	missense	probably benign	0.25
R0480:Prr14l	UTSW	5	32,829,880 (GRCm38)	missense	probably benign	0.02
R0511:Prr14l	UTSW	5	32,844,216 (GRCm38)	intron	probably benign
R0639:Prr14l	UTSW	5	32,828,915 (GRCm38)	missense	probably benign	0.02
R0673:Prr14l	UTSW	5	32,828,915 (GRCm38)	missense	probably benign	0.02
R0743:Prr14l	UTSW	5	32,831,194 (GRCm38)	missense	possibly damaging	0.55
R0792:Prr14l	UTSW	5	32,828,423 (GRCm38)	missense	probably damaging	1.00
R1006:Prr14l	UTSW	5	32,829,482 (GRCm38)	missense	probably benign	0.00
R1342:Prr14l	UTSW	5	32,830,260 (GRCm38)	missense	probably damaging	1.00
R1433:Prr14l	UTSW	5	32,828,833 (GRCm38)	missense	probably damaging	1.00
R1527:Prr14l	UTSW	5	32,827,949 (GRCm38)	missense	possibly damaging	0.75
R1704:Prr14l	UTSW	5	32,830,282 (GRCm38)	missense	probably benign	0.01
R1967:Prr14l	UTSW	5	32,844,469 (GRCm38)	intron	probably benign
R2129:Prr14l	UTSW	5	32,831,828 (GRCm38)	unclassified	probably benign
R2150:Prr14l	UTSW	5	32,830,702 (GRCm38)	missense	probably benign	0.14
R2318:Prr14l	UTSW	5	32,830,078 (GRCm38)	missense	probably benign	0.04
R2915:Prr14l	UTSW	5	32,829,768 (GRCm38)	missense	probably benign	0.04
R3820:Prr14l	UTSW	5	32,828,984 (GRCm38)	missense	probably damaging	0.99
R3852:Prr14l	UTSW	5	32,830,345 (GRCm38)	missense	probably damaging	1.00
R4126:Prr14l	UTSW	5	32,828,003 (GRCm38)	missense	probably damaging	0.97
R4345:Prr14l	UTSW	5	32,828,576 (GRCm38)	missense	probably damaging	1.00
R4388:Prr14l	UTSW	5	32,829,254 (GRCm38)	missense	probably damaging	1.00
R4575:Prr14l	UTSW	5	32,793,644 (GRCm38)	missense	probably damaging	1.00
R4596:Prr14l	UTSW	5	32,829,308 (GRCm38)	missense	probably benign	0.01
R4690:Prr14l	UTSW	5	32,844,156 (GRCm38)	intron	probably benign
R4824:Prr14l	UTSW	5	32,844,399 (GRCm38)	intron	probably benign
R4868:Prr14l	UTSW	5	32,829,937 (GRCm38)	missense	probably benign	0.04
R4869:Prr14l	UTSW	5	32,828,833 (GRCm38)	missense	probably damaging	1.00
R5201:Prr14l	UTSW	5	32,830,247 (GRCm38)	missense	possibly damaging	0.52
R5328:Prr14l	UTSW	5	32,830,021 (GRCm38)	missense	probably benign	0.00
R5410:Prr14l	UTSW	5	32,827,777 (GRCm38)	missense	probably damaging	0.98
R5476:Prr14l	UTSW	5	32,844,138 (GRCm38)	intron	probably benign
R5623:Prr14l	UTSW	5	32,844,508 (GRCm38)	intron	probably benign
R5730:Prr14l	UTSW	5	32,793,603 (GRCm38)	missense	probably damaging	1.00
R5988:Prr14l	UTSW	5	32,830,851 (GRCm38)	missense	probably damaging	0.98
R6261:Prr14l	UTSW	5	32,829,404 (GRCm38)	missense	possibly damaging	0.46
R6283:Prr14l	UTSW	5	32,830,264 (GRCm38)	missense	probably benign	0.14
R6307:Prr14l	UTSW	5	32,827,525 (GRCm38)	missense	probably damaging	0.97
R6825:Prr14l	UTSW	5	32,828,548 (GRCm38)	missense	possibly damaging	0.86
R6862:Prr14l	UTSW	5	32,827,759 (GRCm38)	missense	probably damaging	1.00
R6880:Prr14l	UTSW	5	32,830,867 (GRCm38)	missense	probably benign	0.01
R6931:Prr14l	UTSW	5	32,830,691 (GRCm38)	missense	probably damaging	0.98
R7101:Prr14l	UTSW	5	32,829,427 (GRCm38)	missense	probably damaging	1.00
R7164:Prr14l	UTSW	5	32,829,166 (GRCm38)	missense	probably damaging	1.00
R7203:Prr14l	UTSW	5	32,827,145 (GRCm38)	missense	probably benign	0.34
R7211:Prr14l	UTSW	5	32,830,087 (GRCm38)	missense	probably damaging	0.98
R7305:Prr14l	UTSW	5	32,831,101 (GRCm38)	missense	probably benign	0.14
R7346:Prr14l	UTSW	5	32,830,684 (GRCm38)	missense	probably benign	0.17
R7395:Prr14l	UTSW	5	32,828,638 (GRCm38)	missense	probably benign	0.00
R7624:Prr14l	UTSW	5	32,829,623 (GRCm38)	missense	possibly damaging	0.54
R7649:Prr14l	UTSW	5	32,828,245 (GRCm38)	missense	probably benign	0.18
R7753:Prr14l	UTSW	5	32,827,253 (GRCm38)	missense	probably damaging	1.00
R7828:Prr14l	UTSW	5	32,844,391 (GRCm38)	intron	probably benign
R7898:Prr14l	UTSW	5	32,829,966 (GRCm38)	missense	probably benign	0.04
R8071:Prr14l	UTSW	5	32,831,164 (GRCm38)	missense	probably benign	0.02
R9052:Prr14l	UTSW	5	32,830,134 (GRCm38)	nonsense	probably null
R9136:Prr14l	UTSW	5	32,828,736 (GRCm38)	missense
R9682:Prr14l	UTSW	5	32,830,679 (GRCm38)	missense	probably benign	0.02

Predicted Primers

Posted On

2017-04-14