Mutagenetix > Incidental Mutation

Incidental Mutation 'RF020:Krt2'

603842

Institutional Source

Beutler Lab

Gene Symbol

Krt2

Ensembl Gene

ENSMUSG00000064201

Gene Name

keratin 2

Synonyms

Krt2-17, Krt2-2, Krt2e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

RF020 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101810689-101818169 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101817968 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 45 (I45T)

Ref Sequence

ENSEMBL: ENSMUSP00000023712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023712]

AlphaFold

Q3TTY5

Predicted Effect

unknown
Transcript: ENSMUST00000023712
AA Change: I45T

SMART Domains

Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: I45T

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	23	195	3.6e-26	PFAM
Filament	198	511	4.22e-152	SMART
low complexity region	520	533	N/A	INTRINSIC
low complexity region	538	701	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: ENU-induced mutant mice exhibit scaly skin and increased pigmentation in the tail, ears and feet. Mice homozygous for a knock-out allele show scaly skin, acanthosis, hyperkeratosis, increased water loss, ear skin inflammation, and aberrant aggregation of keratin 10 in suprabasal epidermal keratinocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,533,657	K1270E	possibly damaging	Het
Adgrb2	T	C	4: 130,010,084	S668P	probably damaging	Het
Ahdc1	T	G	4: 133,064,277	L943R	possibly damaging	Het
Ank2	T	C	3: 126,945,476	K2253R	unknown	Het
Arhgap23	T	C	11: 97,463,561	S767P	probably damaging	Het
Arhgef12	A	G	9: 42,989,989	I839T	possibly damaging	Het
Begain	CGCCGC	CGCCGCGGCCGC	12: 109,033,424		probably benign	Het
Btbd19	A	T	4: 117,122,275	C116S	probably damaging	Het
Cbr1	C	T	16: 93,610,179	A261V	probably benign	Het
Ccdc137	A	G	11: 120,458,196	R18G	probably benign	Het
Cdsn	AG	AGACAGGAAGTAGTAGCTCTCAG	17: 35,554,979		probably benign	Het
Celsr3	C	T	9: 108,849,057	R3162C	probably benign	Het
Cep350	A	T	1: 155,915,478	V1300E	probably benign	Het
Cluh	G	GCCAGAT	11: 74,669,538		probably benign	Het
Cmya5	G	T	13: 93,069,291	Q3357K	possibly damaging	Het
Col6a2	T	G	10: 76,606,209		probably null	Het
Cyp2j9	T	A	4: 96,577,652	T315S	probably damaging	Het
Cyp3a13	CATTATT	CATT	5: 137,894,263		probably null	Het
Dnah6	T	A	6: 73,118,057	Y2181F	probably benign	Het
Dnah7b	A	G	1: 46,373,261	D4010G	possibly damaging	Het
E4f1	CCG	CCGACG	17: 24,455,195		probably benign	Het
Ep300	A	T	15: 81,586,571		probably benign	Het
Fam234a	A	G	17: 26,218,751	V90A	probably benign	Het
Fam71e1	GGA	GGAAGGGTGGATCCTGGATACCTGGGTCTGAGGGAAGA	7: 44,500,535		probably null	Het
Gab3	TCT	TCTGCT	X: 75,000,017		probably benign	Het
Gal3st1	A	G	11: 3,998,153	Y120C	possibly damaging	Het
Gm5475	GTGGAAGGAAAGGT	G	15: 100,427,149		probably null	Het
Gm6665	T	TC	18: 31,820,377		probably null	Het
Hdlbp	T	C	1: 93,440,734	T8A	probably benign	Het
Hnrnpa2b1	T	A	6: 51,466,694	K92N	probably damaging	Het
Hsdl2	GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	4: 59,610,640		probably benign	Het
Klhl10	C	G	11: 100,442,070	Q14E	probably benign	Het
Klra2	GAAAGAAATCCA	GAAAGAAATCCAAAGAAATCCA	6: 131,221,838		probably null	Het
Kmt2b	CC	CCTCCTGC	7: 30,586,382		probably benign	Het
Ksr2	T	C	5: 117,555,218	S244P	probably benign	Het
Lama5	A	T	2: 180,196,178	M915K	probably benign	Het
Lrp1b	A	C	2: 41,770,846	H197Q		Het
Lrrc1	T	C	9: 77,452,631	E293G	probably damaging	Het
Med12l	AACA	AACAACA	3: 59,275,958		probably benign	Het
Mgam	T	A	6: 40,685,309	Y1179N	probably damaging	Het
Mgat4c	A	G	10: 102,389,067	I381V	probably benign	Het
Mrgprx1	A	AGAC	7: 48,021,511		probably benign	Het
Myc	A	T	15: 61,985,823		probably benign	Het
Nipbl	A	G	15: 8,358,934	S401P	probably damaging	Het
Nlrp9c	A	T	7: 26,385,224	I310N	probably benign	Het
Nwd2	C	A	5: 63,805,723	Y883*	probably null	Het
Oas1e	T	A	5: 120,794,318	T87S	possibly damaging	Het
Olfr586	A	T	7: 103,121,891	C294S	probably benign	Het
Olfr653	A	G	7: 104,580,290	M215V	probably benign	Het
Olfr885	G	A	9: 38,061,324	M1I	probably null	Het
Olfr964-ps1	GA	GATACA	9: 39,686,753		probably null	Het
Pappa	T	G	4: 65,205,045	S872R	possibly damaging	Het
Parp4	T	C	14: 56,647,349	L1295P	unknown	Het
Pcdh15	A	T	10: 74,185,410	Y152F	probably damaging	Het
Pdk1	A	T	2: 71,883,896	I217L	possibly damaging	Het
Phldb1	A	C	9: 44,697,946	C450W	probably damaging	Het
Pnmal1	C	CCATGATGCACCTGCTTCAACATCA	7: 16,961,451		probably benign	Het
Prl2c5	G	A	13: 13,185,912	G55S	probably benign	Het
Psme2b	A	T	11: 48,945,570	H183Q	probably damaging	Het
Ptms	CCTCCTC	CCTCCTCCTC	6: 124,914,449		probably benign	Het
Rln3	T	C	8: 84,043,302	T73A	probably benign	Het
Rprd1a	T	A	18: 24,530,005	Q21L	probably damaging	Het
Sept3	A	T	15: 82,284,461	D155V	probably damaging	Het
Sh3rf3	T	A	10: 58,813,768	V65E	probably damaging	Het
Shank3	A	G	15: 89,500,390	N155S	probably benign	Het
Shox2	G	T	3: 66,973,813	P278Q	probably damaging	Het
Slc1a1	T	C	19: 28,879,155		probably null	Het
Slc39a10	A	T	1: 46,810,015	F814I	probably damaging	Het
Slc5a1	T	C	5: 33,133,429	I119T	probably damaging	Het
Slc6a13	T	C	6: 121,324,351		probably null	Het
Spta1	A	G	1: 174,213,444	D1270G	probably benign	Het
Spta1	T	A	1: 174,217,903	F1542L	probably damaging	Het
Tacc3	T	A	5: 33,661,224	M1K	probably null	Het
Tax1bp1	T	C	6: 52,721,354	V17A	probably damaging	Het
Thegl	CAGCGATCCTCCCCAGTCCCGCAAGGC	CAGCGATCCTCCCCAGTCCCGCAAGGCGAGCGATCCTCCCCAGTCCCGCAAGGC	5: 77,016,400		probably benign	Het
Tmem156	T	A	5: 65,091,547	E3D	probably benign	Het
Tmem209	T	A	6: 30,487,418	M530L	probably benign	Het
Trpc2	A	G	7: 102,096,226	D883G	unknown	Het
Tsen34	GGAGCCAAAAT	G	7: 3,695,796		probably null	Het
Uhrf2	T	C	19: 30,086,391	Y585H	probably damaging	Het
Vmn1r26	T	A	6: 58,008,720	K161N	probably benign	Het
Vmn1r29	A	G	6: 58,307,543	S83G	probably benign	Het
Vps13b	G	T	15: 35,925,406	W3829L	probably null	Het
Vwce	G	A	19: 10,653,085	G503R	probably damaging	Het
Zc3h11a	T	C	1: 133,626,997	E415G	possibly damaging	Het
Zc3h14	T	A	12: 98,780,282		probably null	Het
Zfp119b	A	T	17: 55,939,499	M229K	probably benign	Het
Zfp384	CCAAGCTCAAGC	CCAAGC	6: 125,036,455		probably benign	Het
Zfp384	GGCCCAGGC	GGCCCAGGCCCACGCCCAGGC	6: 125,036,488		probably benign	Het
Zyx	T	A	6: 42,357,396	L518Q	probably damaging	Het

Other mutations in Krt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01316:Krt2	APN	15	101811211	missense	probably benign	0.23
IGL01568:Krt2	APN	15	101813211	missense	probably damaging	1.00
IGL01586:Krt2	APN	15	101811390	missense	unknown
IGL01667:Krt2	APN	15	101816330	missense	possibly damaging	0.85
IGL02017:Krt2	APN	15	101816504	missense	probably damaging	1.00
IGL02022:Krt2	APN	15	101816518	missense	probably damaging	1.00
IGL02538:Krt2	APN	15	101811154	missense	unknown
IGL02959:Krt2	APN	15	101811328	missense	unknown
IGL03295:Krt2	APN	15	101816429	missense	probably damaging	0.99
R0195:Krt2	UTSW	15	101813191	nonsense	probably null
R0472:Krt2	UTSW	15	101813253	missense	probably damaging	1.00
R0749:Krt2	UTSW	15	101817663	missense	unknown
R0785:Krt2	UTSW	15	101817921	missense	unknown
R0792:Krt2	UTSW	15	101816497	missense	probably damaging	1.00
R1232:Krt2	UTSW	15	101811784	missense	probably damaging	1.00
R1281:Krt2	UTSW	15	101813292	missense	probably damaging	1.00
R1770:Krt2	UTSW	15	101811154	missense	unknown
R1783:Krt2	UTSW	15	101813973	missense	probably damaging	1.00
R1795:Krt2	UTSW	15	101816426	missense	possibly damaging	0.85
R2283:Krt2	UTSW	15	101814387	missense	probably damaging	1.00
R3977:Krt2	UTSW	15	101811127	missense	unknown
R4575:Krt2	UTSW	15	101814486	missense	probably damaging	1.00
R4619:Krt2	UTSW	15	101817591	missense	probably damaging	1.00
R4620:Krt2	UTSW	15	101817591	missense	probably damaging	1.00
R4766:Krt2	UTSW	15	101813960	missense	probably damaging	1.00
R4819:Krt2	UTSW	15	101811544	missense	unknown
R4953:Krt2	UTSW	15	101813942	missense	probably damaging	1.00
R5108:Krt2	UTSW	15	101813286	missense	possibly damaging	0.88
R5973:Krt2	UTSW	15	101816312	missense	probably damaging	0.99
R6122:Krt2	UTSW	15	101815914	missense	probably damaging	1.00
R6180:Krt2	UTSW	15	101815044	missense	probably benign	0.05
R6661:Krt2	UTSW	15	101815963	missense	probably damaging	1.00
R6974:Krt2	UTSW	15	101817879	missense	unknown
R6993:Krt2	UTSW	15	101815960	missense	probably damaging	1.00
R7104:Krt2	UTSW	15	101815087	missense	probably benign	0.09
R7573:Krt2	UTSW	15	101814519	missense	probably benign	0.05
R7947:Krt2	UTSW	15	101816334	missense	probably damaging	1.00
R8469:Krt2	UTSW	15	101816369	missense	probably benign	0.22
R8805:Krt2	UTSW	15	101815944	missense	possibly damaging	0.93
R9051:Krt2	UTSW	15	101817882	missense	unknown
R9118:Krt2	UTSW	15	101814541	missense	probably damaging	0.99
R9230:Krt2	UTSW	15	101817513	missense	probably benign	0.39
R9257:Krt2	UTSW	15	101816491	missense	probably benign	0.05
R9424:Krt2	UTSW	15	101811357	missense	unknown
R9569:Krt2	UTSW	15	101816489	missense	probably damaging	1.00
R9576:Krt2	UTSW	15	101811357	missense	unknown
Z1177:Krt2	UTSW	15	101811550	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAATCCTTGGCCTCCTCCAAAG -3'
(R):5'- TCAGGAATATTCACTCGTCTTGC -3'

Sequencing Primer
(F):5'- TGGCCACCTCCAAATCCTCG -3'
(R):5'- GGAATATTCACTCGTCTTGCTGAGC -3'

Posted On

2019-12-04