Mutagenetix > Incidental Mutation

Incidental Mutation 'R8251:Cemip2'

640263

Institutional Source

Beutler Lab

Gene Symbol

Cemip2

Ensembl Gene

ENSMUSG00000024754

Gene Name

cell migration inducing hyaluronidase 2

Synonyms

3110012M15Rik, Tmem2

MMRRC Submission

067677-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.820) question?

Stock #

R8251 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21755706-21835724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21784765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 416 (V416A)

Ref Sequence

ENSEMBL: ENSMUSP00000025663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025663] [ENSMUST00000096194]

AlphaFold

Q5FWI3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025663
AA Change: V416A

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: V416A

Domain	Start	End	E-Value	Type
transmembrane domain	83	105	N/A	INTRINSIC
G8	121	245	1.89e-44	SMART
Pfam:ILEI	265	360	2.1e-24	PFAM
Blast:PbH1	587	609	1e-6	BLAST
low complexity region	621	633	N/A	INTRINSIC
PbH1	669	691	3.62e3	SMART
PbH1	711	733	1.84e3	SMART
PbH1	791	812	1.33e3	SMART
Pfam:ILEI	1243	1333	9e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096194
AA Change: V416A

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: V416A

Domain	Start	End	E-Value	Type
transmembrane domain	83	105	N/A	INTRINSIC
G8	121	245	1.89e-44	SMART
Blast:PbH1	587	609	1e-6	BLAST
low complexity region	621	633	N/A	INTRINSIC
PbH1	669	691	3.62e3	SMART
PbH1	711	733	1.84e3	SMART
PbH1	791	812	1.33e3	SMART

Meta Mutation Damage Score

0.1466

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	A	T	9: 103,968,906 (GRCm39)	D463V	possibly damaging	Het
Adamtsl4	C	T	3: 95,591,884 (GRCm39)	R68Q	probably damaging	Het
Ankrd12	A	T	17: 66,291,554 (GRCm39)	M1293K	possibly damaging	Het
Arhgap21	T	C	2: 20,854,221 (GRCm39)	T1724A	probably benign	Het
C1qtnf12	T	C	4: 156,050,916 (GRCm39)	I295T	probably damaging	Het
Cacna1s	G	T	1: 136,014,461 (GRCm39)	G623W	probably damaging	Het
Cenpe	T	A	3: 134,957,445 (GRCm39)		probably null	Het
Cep85l	A	T	10: 53,157,450 (GRCm39)	I751N	probably damaging	Het
Corin	T	A	5: 72,514,269 (GRCm39)	D468V	probably damaging	Het
Ctsr	A	G	13: 61,310,592 (GRCm39)	V51A	probably damaging	Het
Dnah14	A	C	1: 181,492,430 (GRCm39)	E1630A	probably damaging	Het
Dsg4	C	A	18: 20,604,221 (GRCm39)	A896E	probably damaging	Het
Ear2	T	C	14: 44,340,477 (GRCm39)	L45P	probably benign	Het
Fshr	T	G	17: 89,507,913 (GRCm39)	D43A	probably benign	Het
Gata6	G	A	18: 11,054,670 (GRCm39)	G200S	probably benign	Het
Gnaq	T	A	19: 16,312,419 (GRCm39)	M227K	probably damaging	Het
Ifit1bl1	T	C	19: 34,572,232 (GRCm39)	Q75R	possibly damaging	Het
Impg2	A	G	16: 56,079,960 (GRCm39)	E479G	possibly damaging	Het
Ints7	C	T	1: 191,353,545 (GRCm39)	P957L	unknown	Het
Jmjd1c	T	C	10: 67,075,068 (GRCm39)	V73A	noncoding transcript	Het
Kansl1	A	G	11: 104,315,186 (GRCm39)	I284T	probably benign	Het
Kcnj9	A	G	1: 172,154,089 (GRCm39)	S12P	probably benign	Het
Krt16	A	G	11: 100,139,196 (GRCm39)		probably null	Het
Lrguk	A	T	6: 34,093,374 (GRCm39)	T632S	probably benign	Het
Man2b1	G	A	8: 85,821,758 (GRCm39)	V687M	probably damaging	Het
Mroh5	T	C	15: 73,655,002 (GRCm39)	E653G	probably benign	Het
Nabp1	A	T	1: 51,516,737 (GRCm39)	S44T	probably benign	Het
Nt5dc3	C	A	10: 86,656,091 (GRCm39)	H256Q	probably damaging	Het
Or1j15	A	C	2: 36,459,467 (GRCm39)	N286H	probably damaging	Het
Or4a81	A	T	2: 89,619,567 (GRCm39)	I43N	probably damaging	Het
Or5p50	A	G	7: 107,421,776 (GRCm39)	I300T	probably damaging	Het
Pkd2	T	C	5: 104,646,353 (GRCm39)	V720A	probably benign	Het
Pnpla6	T	A	8: 3,582,399 (GRCm39)	N706K	probably benign	Het
Polr1b	C	A	2: 128,965,086 (GRCm39)	P724Q	probably damaging	Het
Rbpjl	A	G	2: 164,255,854 (GRCm39)	E366G	probably damaging	Het
Runx1t1	A	G	4: 13,846,947 (GRCm39)	T244A	possibly damaging	Het
Slitrk3	C	T	3: 72,956,729 (GRCm39)	R681H	possibly damaging	Het
Slu7	A	G	11: 43,330,128 (GRCm39)	Y185C	probably damaging	Het
Snupn	T	A	9: 56,888,137 (GRCm39)	F231L	probably damaging	Het
Srpk2	G	A	5: 23,729,266 (GRCm39)	P458S	probably benign	Het
St3gal5	T	A	6: 72,126,144 (GRCm39)	F330I	probably benign	Het
Taf3	T	C	2: 9,922,962 (GRCm39)	D878G	possibly damaging	Het
Tex44	A	G	1: 86,354,936 (GRCm39)	N282D	probably benign	Het
Tmem126a	T	C	7: 90,100,094 (GRCm39)	I150V	probably benign	Het
Trbv21	A	G	6: 41,179,540 (GRCm39)		probably benign	Het
Vmn2r70	A	T	7: 85,215,186 (GRCm39)	L116*	probably null	Het
Vps36	A	G	8: 22,682,932 (GRCm39)	T16A	probably benign	Het
Wdr17	C	A	8: 55,110,267 (GRCm39)	G837W	probably damaging	Het
Zfp397	T	C	18: 24,093,361 (GRCm39)	V282A	probably benign	Het

Other mutations in Cemip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Cemip2	APN	19	21,822,121 (GRCm39)	missense	possibly damaging	0.77
IGL01528:Cemip2	APN	19	21,812,909 (GRCm39)	missense	possibly damaging	0.95
IGL01642:Cemip2	APN	19	21,801,265 (GRCm39)	missense	probably damaging	1.00
IGL01693:Cemip2	APN	19	21,779,251 (GRCm39)	missense	probably benign	0.00
IGL02437:Cemip2	APN	19	21,789,342 (GRCm39)	critical splice donor site	probably null
IGL02869:Cemip2	APN	19	21,789,241 (GRCm39)	missense	probably damaging	0.99
IGL02880:Cemip2	APN	19	21,801,207 (GRCm39)	missense	possibly damaging	0.68
IGL02904:Cemip2	APN	19	21,801,207 (GRCm39)	missense	possibly damaging	0.68
IGL02941:Cemip2	APN	19	21,801,207 (GRCm39)	missense	possibly damaging	0.68
IGL02950:Cemip2	APN	19	21,819,564 (GRCm39)	missense	probably benign	0.07
IGL03066:Cemip2	APN	19	21,801,207 (GRCm39)	missense	possibly damaging	0.68
IGL03120:Cemip2	APN	19	21,801,207 (GRCm39)	missense	possibly damaging	0.68
R0005:Cemip2	UTSW	19	21,789,584 (GRCm39)	missense	probably damaging	0.98
R0496:Cemip2	UTSW	19	21,774,709 (GRCm39)	missense	possibly damaging	0.89
R0557:Cemip2	UTSW	19	21,789,267 (GRCm39)	missense	probably benign	0.05
R0620:Cemip2	UTSW	19	21,795,335 (GRCm39)	missense	probably benign
R1271:Cemip2	UTSW	19	21,801,268 (GRCm39)	missense	possibly damaging	0.92
R1435:Cemip2	UTSW	19	21,822,070 (GRCm39)	missense	probably benign
R1543:Cemip2	UTSW	19	21,789,937 (GRCm39)	missense	probably benign	0.03
R1558:Cemip2	UTSW	19	21,775,346 (GRCm39)	nonsense	probably null
R1658:Cemip2	UTSW	19	21,779,243 (GRCm39)	missense	probably damaging	1.00
R1744:Cemip2	UTSW	19	21,809,501 (GRCm39)	nonsense	probably null
R1859:Cemip2	UTSW	19	21,825,341 (GRCm39)	missense	possibly damaging	0.56
R1943:Cemip2	UTSW	19	21,825,404 (GRCm39)	splice site	probably null
R2001:Cemip2	UTSW	19	21,779,351 (GRCm39)	missense	probably benign	0.43
R2021:Cemip2	UTSW	19	21,822,114 (GRCm39)	missense	possibly damaging	0.91
R2177:Cemip2	UTSW	19	21,789,149 (GRCm39)	missense	possibly damaging	0.80
R2183:Cemip2	UTSW	19	21,801,157 (GRCm39)	missense	possibly damaging	0.81
R2921:Cemip2	UTSW	19	21,795,303 (GRCm39)	missense	possibly damaging	0.80
R2922:Cemip2	UTSW	19	21,795,303 (GRCm39)	missense	possibly damaging	0.80
R2923:Cemip2	UTSW	19	21,795,303 (GRCm39)	missense	possibly damaging	0.80
R3727:Cemip2	UTSW	19	21,822,075 (GRCm39)	missense	probably benign
R3730:Cemip2	UTSW	19	21,803,481 (GRCm39)	missense	probably damaging	0.97
R3790:Cemip2	UTSW	19	21,784,816 (GRCm39)	missense	probably damaging	1.00
R3831:Cemip2	UTSW	19	21,825,315 (GRCm39)	missense	probably damaging	0.97
R3858:Cemip2	UTSW	19	21,829,598 (GRCm39)	missense	probably benign	0.01
R3859:Cemip2	UTSW	19	21,829,598 (GRCm39)	missense	probably benign	0.01
R3899:Cemip2	UTSW	19	21,829,598 (GRCm39)	missense	probably benign	0.01
R4096:Cemip2	UTSW	19	21,770,016 (GRCm39)	start codon destroyed	probably null	0.99
R4206:Cemip2	UTSW	19	21,819,479 (GRCm39)	missense	probably damaging	1.00
R4480:Cemip2	UTSW	19	21,792,853 (GRCm39)	missense	probably benign	0.03
R4667:Cemip2	UTSW	19	21,822,145 (GRCm39)	missense	probably benign
R4667:Cemip2	UTSW	19	21,774,715 (GRCm39)	missense	probably benign	0.00
R4888:Cemip2	UTSW	19	21,833,528 (GRCm39)	missense	probably benign	0.00
R4914:Cemip2	UTSW	19	21,786,653 (GRCm39)	missense	probably benign	0.00
R5030:Cemip2	UTSW	19	21,819,469 (GRCm39)	missense	probably benign
R5329:Cemip2	UTSW	19	21,775,693 (GRCm39)	missense	probably benign	0.30
R5977:Cemip2	UTSW	19	21,803,447 (GRCm39)	missense	probably benign	0.01
R6013:Cemip2	UTSW	19	21,809,403 (GRCm39)	missense	possibly damaging	0.89
R6049:Cemip2	UTSW	19	21,803,490 (GRCm39)	missense	probably benign
R6199:Cemip2	UTSW	19	21,822,186 (GRCm39)	missense	probably benign	0.05
R6215:Cemip2	UTSW	19	21,789,751 (GRCm39)	missense	probably benign	0.02
R6273:Cemip2	UTSW	19	21,779,369 (GRCm39)	missense	probably damaging	1.00
R6429:Cemip2	UTSW	19	21,779,272 (GRCm39)	missense	probably benign	0.14
R6547:Cemip2	UTSW	19	21,822,195 (GRCm39)	missense	probably benign	0.01
R6630:Cemip2	UTSW	19	21,829,593 (GRCm39)	missense	probably damaging	0.99
R6870:Cemip2	UTSW	19	21,809,487 (GRCm39)	missense	possibly damaging	0.91
R7276:Cemip2	UTSW	19	21,812,824 (GRCm39)	missense	probably benign	0.14
R7336:Cemip2	UTSW	19	21,803,509 (GRCm39)	nonsense	probably null
R7363:Cemip2	UTSW	19	21,833,575 (GRCm39)	missense	probably benign
R7678:Cemip2	UTSW	19	21,775,480 (GRCm39)	missense	probably damaging	1.00
R7727:Cemip2	UTSW	19	21,807,321 (GRCm39)	missense	probably benign	0.00
R7820:Cemip2	UTSW	19	21,784,825 (GRCm39)	missense	probably damaging	0.98
R7837:Cemip2	UTSW	19	21,775,385 (GRCm39)	missense	probably benign	0.40
R7859:Cemip2	UTSW	19	21,809,539 (GRCm39)	missense	possibly damaging	0.95
R7954:Cemip2	UTSW	19	21,770,264 (GRCm39)	missense	probably damaging	1.00
R7964:Cemip2	UTSW	19	21,775,794 (GRCm39)	critical splice donor site	probably null
R8058:Cemip2	UTSW	19	21,829,695 (GRCm39)	missense	probably benign	0.12
R8746:Cemip2	UTSW	19	21,803,465 (GRCm39)	missense	probably damaging	1.00
R8820:Cemip2	UTSW	19	21,784,818 (GRCm39)	missense	probably damaging	0.99
R8931:Cemip2	UTSW	19	21,770,323 (GRCm39)	missense	probably benign	0.01
R9022:Cemip2	UTSW	19	21,789,986 (GRCm39)	critical splice donor site	probably null
R9354:Cemip2	UTSW	19	21,779,389 (GRCm39)	missense	probably benign	0.00
R9480:Cemip2	UTSW	19	21,775,622 (GRCm39)	missense	possibly damaging	0.64
R9495:Cemip2	UTSW	19	21,779,249 (GRCm39)	missense	probably damaging	0.99
R9593:Cemip2	UTSW	19	21,803,453 (GRCm39)	missense	probably damaging	1.00
R9705:Cemip2	UTSW	19	21,784,788 (GRCm39)	missense	probably damaging	0.96
R9740:Cemip2	UTSW	19	21,822,105 (GRCm39)	missense	probably benign	0.00
Z1177:Cemip2	UTSW	19	21,833,093 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCTTTAGGGGCCAGAATCCC -3'
(R):5'- TTCCCAAGGTCAGTGAGGAGTC -3'

Sequencing Primer
(F):5'- GGGGCCAGAATCCCTATTTTATC -3'
(R):5'- GAGGAGTCCTCTACCTTTGACTTTG -3'

Posted On

2020-07-28