Mutagenetix > Incidental Mutation

Incidental Mutation 'R9410:Krtap2-4'

711763

Institutional Source

Beutler Lab

Gene Symbol

Krtap2-4

Ensembl Gene

ENSMUSG00000060756

Gene Name

keratin associated protein 2-4

Synonyms

5530401P19Rik, KRTAP2.4, KAP2.4

MMRRC Submission

Accession Numbers

Essential gene?

Not available question?

Stock #

R9410 (G1)

Quality Score

155.008

Status

Not validated

Chromosome

Chromosomal Location

99504845-99505672 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 99505437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 58 (R58L)

Ref Sequence

ENSEMBL: ENSMUSP00000074461 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074926] [ENSMUST00000076478]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074926
AA Change: R58L

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074461
Gene: ENSMUSG00000060756
AA Change: R58L

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	56	5.8e-4	PFAM
Pfam:Keratin_B2	1	72	2.6e-12	PFAM
Pfam:Keratin_B2_2	53	101	1.3e-5	PFAM
Pfam:Keratin_B2_2	92	131	6.1e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076478

SMART Domains

Protein: ENSMUSP00000075802
Gene: ENSMUSG00000058725

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	56	5.8e-4	PFAM
Pfam:Keratin_B2	1	72	2.6e-12	PFAM
Pfam:Keratin_B2_2	53	101	1.3e-5	PFAM
Pfam:Keratin_B2_2	92	131	6.1e-4	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,869,703 (GRCm39)	S772L	probably benign	Het
Ampd2	A	T	3: 107,982,590 (GRCm39)	V722E	probably damaging	Het
Appbp2	A	T	11: 85,106,067 (GRCm39)	F83Y	probably damaging	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
B020004C17Rik	A	T	14: 57,254,273 (GRCm39)	Y132F	possibly damaging	Het
Cnr1	A	G	4: 33,944,973 (GRCm39)	T454A	possibly damaging	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Ctla4	A	T	1: 60,951,911 (GRCm39)	T147S	probably damaging	Het
Ctsa	T	C	2: 164,677,101 (GRCm39)	L152P	probably damaging	Het
Dgkh	T	C	14: 78,862,293 (GRCm39)	T225A	probably damaging	Het
Dsg1a	A	T	18: 20,464,590 (GRCm39)	I362F	possibly damaging	Het
Dzank1	C	T	2: 144,324,050 (GRCm39)		probably null	Het
Ephb2	A	T	4: 136,386,948 (GRCm39)	C760S	probably null	Het
Exoc1	T	A	5: 76,706,989 (GRCm39)	V512E	probably benign	Het
Faiml	C	A	9: 99,111,587 (GRCm39)	K157N	probably benign	Het
Fpr2	C	T	17: 18,113,604 (GRCm39)	T200I	probably benign	Het
Fscn3	C	T	6: 28,430,432 (GRCm39)	R201*	probably null	Het
Hcrtr1	A	T	4: 130,029,514 (GRCm39)	L189Q	probably damaging	Het
Igkv4-62	T	C	6: 69,376,832 (GRCm39)	T84A	probably benign	Het
Meis1	C	T	11: 18,833,987 (GRCm39)		probably null	Het
Mfsd2b	T	A	12: 4,915,747 (GRCm39)	I422F	probably damaging	Het
Mre11a	G	A	9: 14,716,716 (GRCm39)	V304M	probably damaging	Het
Myo5a	A	G	9: 75,023,496 (GRCm39)	E19G	probably damaging	Het
Ndufa10	A	T	1: 92,367,614 (GRCm39)	Y339N	probably damaging	Het
Odad1	T	C	7: 45,597,821 (GRCm39)	V577A	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Pcdh15	CAGAGA	CAGA	10: 74,481,663 (GRCm39)		probably null	Het
Pcdh18	G	A	3: 49,699,615 (GRCm39)	P949L	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Plin4	A	G	17: 56,413,995 (GRCm39)	V210A	probably benign	Het
Rnf150	T	C	8: 83,762,722 (GRCm39)	M319T	possibly damaging	Het
Rnf180	CGAGG	CGAGGAGG	13: 105,386,781 (GRCm39)		probably benign	Het
Ruvbl2	G	A	7: 45,071,618 (GRCm39)	Q422*	probably null	Het
Shroom1	C	T	11: 53,354,217 (GRCm39)	R46C	probably damaging	Het
Slc22a2	T	C	17: 12,805,732 (GRCm39)	F161S	probably damaging	Het
Src	T	A	2: 157,311,676 (GRCm39)	M468K	probably damaging	Het
Stag3	T	C	5: 138,297,601 (GRCm39)	F606L	possibly damaging	Het
Stau1	T	C	2: 166,797,038 (GRCm39)	T120A	probably benign	Het
Sulf2	A	C	2: 165,936,444 (GRCm39)	L174R		Het
Sumf1	A	C	6: 108,150,363 (GRCm39)	F156C	probably damaging	Het
Tenm2	T	A	11: 36,032,396 (GRCm39)	D708V	probably damaging	Het
Tmprss12	A	C	15: 100,190,622 (GRCm39)	I331L	possibly damaging	Het
Tnfrsf10b	T	G	14: 70,010,849 (GRCm39)	C85G	probably damaging	Het
Trav10d	C	A	14: 53,048,845 (GRCm39)	Q79K	probably benign	Het
Vmn1r236	T	A	17: 21,507,756 (GRCm39)	Y291*	probably null	Het
Vmn2r115	T	C	17: 23,578,915 (GRCm39)	I796T	possibly damaging	Het
Zfp189	T	A	4: 49,529,942 (GRCm39)	H348Q	possibly damaging	Het
Zfp563	T	A	17: 33,321,320 (GRCm39)	L40Q	probably damaging	Het

Other mutations in Krtap2-4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1782:Krtap2-4	UTSW	11	99,505,353 (GRCm39)	missense	probably damaging	1.00
R1883:Krtap2-4	UTSW	11	99,505,505 (GRCm39)	unclassified	probably benign
R1884:Krtap2-4	UTSW	11	99,505,505 (GRCm39)	unclassified	probably benign
R2102:Krtap2-4	UTSW	11	99,505,606 (GRCm39)	unclassified	probably benign
R6465:Krtap2-4	UTSW	11	99,505,585 (GRCm39)	unclassified	probably benign
R6937:Krtap2-4	UTSW	11	99,505,299 (GRCm39)	unclassified	probably benign
R7361:Krtap2-4	UTSW	11	99,505,420 (GRCm39)	missense	probably damaging	1.00
R8829:Krtap2-4	UTSW	11	99,505,246 (GRCm39)	missense	unknown
R8832:Krtap2-4	UTSW	11	99,505,246 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCAGCAGCAGGTGTTACAGG -3'
(R):5'- CATCGTACCTGAGAACTCCC -3'

Sequencing Primer
(F):5'- CAGGTGTTACAGGGGGAGGTC -3'
(R):5'- GTACCTGAGAACTCCCAACCTCTC -3'

Posted On

2022-05-16